Publications by authors named "Barbara Stranger"

75Publications

Association of CNVs with methylation variation.

NPJ Genom Med 2020 24;5:41. Epub 2020 Sep 24.

Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115 USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41525-020-00145-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7519119PMC
September 2020

ImmGen report: sexual dimorphism in the immune system transcriptome.

Nat Commun 2019 09 20;10(1):4295. Epub 2019 Sep 20.

Department of Life Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-019-12348-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6754408PMC
September 2019

Author Correction: The role of sex in the genomics of human complex traits.

Nat Rev Genet 2019 Aug;20(8):494

Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41576-019-0148-9DOI Listing
August 2019

The new science of sex differences in neuropsychiatric traits.

Am J Med Genet B Neuropsychiatr Genet 2019 09 24;180(6):333-334. Epub 2019 Jun 24.

Section of Genetic Medicine, Department of Medicine, The University of Chicago.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.32747DOI Listing
September 2019

The role of sex in the genomics of human complex traits.

Nat Rev Genet 2019 03;20(3):173-190

Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41576-018-0083-1
Publisher Site
http://dx.doi.org/10.1038/s41576-018-0083-1DOI Listing
March 2019

Sex differences in the genetic architecture of obsessive-compulsive disorder.

Am J Med Genet B Neuropsychiatr Genet 2019 09 20;180(6):351-364. Epub 2018 Nov 20.

Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, Illinois.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.b.32687
Publisher Site
http://dx.doi.org/10.1002/ajmg.b.32687DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6527502PMC
September 2019

Evaluation of Genetic Predisposition for MYCN-Amplified Neuroblastoma.

J Natl Cancer Inst 2017 10;109(10)

Affiliations of authors: Section of Hematology/Oncology, Department of Pediatrics (EAH, MAA, ADS, SLV, SLC), Section of Genetic Medicine, Department of Medicine (BES), and Institute for Genomics and Systems Biology, Center for Data Intensive Science (BES), University of Chicago, Chicago, IL; Division of Oncology and Center for Childhood Cancer Research and Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA (ZV, MD, LM, JMM, SJD); Department of Pediatrics and Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA (JMM, SJD); Department of Pediatrics, Hofstra-Northwell School of Medicine and The Feinstein Institute for Medical Research, Manhasset, NY (KO).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/jnci/djx093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6279278PMC
October 2017

Large-Scale trans-eQTLs Affect Hundreds of Transcripts and Mediate Patterns of Transcriptional Co-regulation.

Am J Hum Genet 2017 Apr 9;100(4):581-591. Epub 2017 Mar 9.

Department of Neurology, Yale University School of Medicine, New Haven, CT 06520, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384037PMC
April 2017

Assocplots: a Python package for static and interactive visualization of multiple-group GWAS results.

Bioinformatics 2017 02;33(3):432-434

Department of Medicine, Section of Genetic Medicine, The University of Chicago, Chicago, IL, USA.

View Article

Download full-text PDF

Source
https://academic.oup.com/bioinformatics/article-lookup/doi/1
Publisher Site
http://dx.doi.org/10.1093/bioinformatics/btw641DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6410886PMC
February 2017

Genetic architecture of age-related cognitive decline in African Americans.

Neurol Genet 2017 Feb 21;3(1):e125. Epub 2016 Dec 21.

Program in Translational NeuroPsychiatric Genomics (T.R., L.B.C., J.M.R., P.L.D.J.), Institute for the Neurosciences, Departments of Neurology and Psychiatry, Center for Neurologic Disease (T.R., A.W., A.K., P.L.D.J.), Department of Neurology, and Division of Genetics (T.R., L.B.C., P.L.D.J.), Department of Medicine, Brigham and Women's Hospital, Boston, MA; Harvard Medical School (T.R., L.B.C., P.L.D.J.), Boston, MA; Program in Medical and Population genetics (T.R., L.B.C., C.M., J.M.R., P.L.D.J.), The Broad Institute, Cambridge, MA; Section of Genetic Medicine (B.S.), Department of Medicine, and Institute for Genomics and Systems Biology (B.S.), University of Chicago, IL; Indiana University Center for Aging Research (H.C.H.); Department of Psychiatry (F.W.U., H.C.H., K.S.H.), Department of Biostatistics (S.G.), Indiana University School of Medicine; Department of Medical and Molecular Genetics (J.M., T.F.), Indiana University, Indianapolis; Rush Institute for Healthy Aging (D.A.V.), Department of Internal Medicine, Department of Neurology (L.B., D.A.B.), and Rush Alzheimer's Disease Center (L.Y., L.B., D.A.B.), Rush University Medical Center, Chicago, IL. T.R. is currently affiliated with Ronald M. Loeb Center for Alzheimer's Disease, Departments of Neuroscience, and Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5206965PMC
February 2017

Neuroblastoma survivors are at increased risk for second malignancies: A report from the International Neuroblastoma Risk Group Project.

Eur J Cancer 2017 02 26;72:177-185. Epub 2016 Dec 26.

Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Abramson Family Cancer Research Institute, Philadelphia, PA, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejca.2016.11.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5258837PMC
February 2017

Imputing Gene Expression in Uncollected Tissues Within and Beyond GTEx.

Am J Hum Genet 2016 Apr 31;98(4):697-708. Epub 2016 Mar 31.

Department of Public Health Sciences, University of Chicago, Chicago, IL 60637, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2016.02.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833292PMC
April 2016

The transcriptional landscape of age in human peripheral blood.

Authors:
Marjolein J Peters Roby Joehanes Luke C Pilling Claudia Schurmann Karen N Conneely Joseph Powell Eva Reinmaa George L Sutphin Alexandra Zhernakova Katharina Schramm Yana A Wilson Sayuko Kobes Taru Tukiainen Yolande F Ramos Harald H H Göring Myriam Fornage Yongmei Liu Sina A Gharib Barbara E Stranger Philip L De Jager Abraham Aviv Daniel Levy Joanne M Murabito Peter J Munson Tianxiao Huan Albert Hofman André G Uitterlinden Fernando Rivadeneira Jeroen van Rooij Lisette Stolk Linda Broer Michael M P J Verbiest Mila Jhamai Pascal Arp Andres Metspalu Liina Tserel Lili Milani Nilesh J Samani Pärt Peterson Silva Kasela Veryan Codd Annette Peters Cavin K Ward-Caviness Christian Herder Melanie Waldenberger Michael Roden Paula Singmann Sonja Zeilinger Thomas Illig Georg Homuth Hans-Jörgen Grabe Henry Völzke Leif Steil Thomas Kocher Anna Murray David Melzer Hanieh Yaghootkar Stefania Bandinelli Eric K Moses Jack W Kent Joanne E Curran Matthew P Johnson Sarah Williams-Blangero Harm-Jan Westra Allan F McRae Jennifer A Smith Sharon L R Kardia Iiris Hovatta Markus Perola Samuli Ripatti Veikko Salomaa Anjali K Henders Nicholas G Martin Alicia K Smith Divya Mehta Elisabeth B Binder K Maria Nylocks Elizabeth M Kennedy Torsten Klengel Jingzhong Ding Astrid M Suchy-Dicey Daniel A Enquobahrie Jennifer Brody Jerome I Rotter Yii-Der I Chen Jeanine Houwing-Duistermaat Margreet Kloppenburg P Eline Slagboom Quinta Helmer Wouter den Hollander Shannon Bean Towfique Raj Noman Bakhshi Qiao Ping Wang Lisa J Oyston Bruce M Psaty Russell P Tracy Grant W Montgomery Stephen T Turner John Blangero Ingrid Meulenbelt Kerry J Ressler Jian Yang Lude Franke Johannes Kettunen Peter M Visscher G Gregory Neely Ron Korstanje Robert L Hanson Holger Prokisch Luigi Ferrucci Tonu Esko Alexander Teumer Joyce B J van Meurs Andrew D Johnson

Nat Commun 2015 Oct 22;6:8570. Epub 2015 Oct 22.

The National Heart, Lung, and Blood Institute's and Boston University's Framingham Heart Study, Framingham, Massachusetts 01702, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ncomms9570DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639797PMC
October 2015

Expression Quantitative Trait Loci Information Improves Predictive Modeling of Disease Relevance of Non-Coding Genetic Variation.

PLoS One 2015 16;10(10):e0140758. Epub 2015 Oct 16.

Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America; BWH Pulmonary Genetics Center, Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0140758PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608673PMC
June 2016

Disentangling the Effects of Colocalizing Genomic Annotations to Functionally Prioritize Non-coding Variants within Complex-Trait Loci.

Am J Hum Genet 2015 Jul;97(1):139-52

Divisions of Genetics and Rheumatology, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02446, USA; Partners Center for Personalized Genetic Medicine, Boston, MA 02446, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Institute of Inflammation and Repair, University of Manchester, Manchester M13 9PT, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2015.05.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572568PMC
July 2015

Accurate and fast multiple-testing correction in eQTL studies.

Am J Hum Genet 2015 Jun 28;96(6):857-68. Epub 2015 May 28.

Asan Institute for Life Sciences, Asan Medical Center, Seoul 138-736, Republic of Korea; Department of Medicine, University of Ulsan College of Medicine, Seoul 138-736, Republic of Korea. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2015.04.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4457958PMC
June 2015

Human HLA-G+ extravillous trophoblasts: Immune-activating cells that interact with decidual leukocytes.

Proc Natl Acad Sci U S A 2015 Jun 26;112(23):7219-24. Epub 2015 May 26.

Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1507977112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4466754PMC
June 2015

The impact of human copy number variation on gene expression.

Brief Funct Genomics 2015 Sep 27;14(5):352-7. Epub 2015 Apr 27.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/bfgp/elv017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592354PMC
September 2015

ImmVar project: Insights and design considerations for future studies of "healthy" immune variation.

Semin Immunol 2015 Feb 25;27(1):51-7. Epub 2015 Mar 25.

Department of Microbiology and Immunobiology, Division of Immunology, Harvard Medical School, Boston, MA 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.smim.2015.03.003DOI Listing
February 2015

Intersection of population variation and autoimmunity genetics in human T cell activation.

Science 2014 Sep;345(6202):1254665

Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA. Division of Immunology, Department of Microbiology and Immunobiology, Harvard Medical School, Boston, MA 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/science.1254665DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4751028PMC
September 2014

Regulation of gene expression in autoimmune disease loci and the genetic basis of proliferation in CD4+ effector memory T cells.

PLoS Genet 2014 Jun 26;10(6):e1004404. Epub 2014 Jun 26.

Division of Rheumatology, Immunology and Allergy, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States of America; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States of America; Partners Center for Personalized Genetic Medicine, Boston, Massachusetts, United States of America; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America; Faculty of Medical and Human Sciences, University of Manchester, Manchester, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1004404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4072514PMC
June 2014

Expression QTL-based analyses reveal candidate causal genes and loci across five tumor types.

Hum Mol Genet 2014 Oct 6;23(19):5294-302. Epub 2014 Jun 6.

Department of Medical Oncology, The Center for Functional Cancer Epigenetics, Dana Farber Cancer Institute, Boston, MA, USA Program in Medical and Population Genetics, The Broad Institute, Cambridge, MA, USA

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddu228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215106PMC
October 2014

Interindividual variation in human T regulatory cells.

Proc Natl Acad Sci U S A 2014 Mar 7;111(12):E1111-20. Epub 2014 Mar 7.

Division of Immunology, Department of Microbiology and Immunobiology, Harvard Medical School, Boston, MA 02115.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1401343111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3970507PMC
March 2014

Genetics of rheumatoid arthritis contributes to biology and drug discovery.

Nature 2014 Feb 25;506(7488):376-81. Epub 2013 Dec 25.

1] Division of Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA. [2] Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA. [3] Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts 02142, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nature12873DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3944098PMC
February 2014

CD33: increased inclusion of exon 2 implicates the Ig V-set domain in Alzheimer's disease susceptibility.

Hum Mol Genet 2014 May 30;23(10):2729-36. Epub 2013 Dec 30.

Program in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences, Departments of Neurology and Psychiatry, Brigham and Women's Hospital, Boston, MA 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddt666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990171PMC
May 2014

Genomics of alternative splicing: evolution, development and pathophysiology.

Hum Genet 2014 Jun 1;133(6):679-87. Epub 2014 Jan 1.

Section of Genetic Medicine, Department of Medicine, The University of Chicago, KCBD 3220D, 900 East 57th Street, Chicago, IL, 60637-1234, USA,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-013-1411-3DOI Listing
June 2014

Fine-mapping the genetic association of the major histocompatibility complex in multiple sclerosis: HLA and non-HLA effects.

PLoS Genet 2013 Nov 21;9(11):e1003926. Epub 2013 Nov 21.

Program in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences, Department of Neurology, Brigham & Women's Hospital, Boston, Massachusetts, United States of America ; Division of Genetics, Department of Medicine, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America ; Harvard Medical School, Boston, Massachusetts, United States of America ; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, United States of America.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1003926DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3836799PMC
November 2013

Genetics of human gene expression.

Curr Opin Genet Dev 2013 Dec 14;23(6):627-34. Epub 2013 Nov 14.

Section of Genetic Medicine, Department of Medicine, University of Chicago, IL, USA; Institute for Genomics and Systems Biology, University of Chicago, Chicago, IL, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gde.2013.10.004DOI Listing
December 2013

Common risk alleles for inflammatory diseases are targets of recent positive selection.

Am J Hum Genet 2013 Apr 21;92(4):517-29. Epub 2013 Mar 21.

Program in Translational NeuroPsychiatric Genomics, Department of Neurology, Brigham & Women's Hospital, Boston, MA 02115, USA.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297130010
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2013.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3617371PMC
April 2013

Integrative eQTL-based analyses reveal the biology of breast cancer risk loci.

Cell 2013 Jan;152(3):633-41

Department of Medical Oncology, The Center for Functional Cancer Epigenetics, Dana-Farber Cancer Institute, Boston, MA 02215, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cell.2012.12.034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4165609PMC
January 2013

Chromatin marks identify critical cell types for fine mapping complex trait variants.

Nat Genet 2013 Feb 23;45(2):124-30. Epub 2012 Dec 23.

Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.2504DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3826950PMC
February 2013

Coordinating GWAS results with gene expression in a systems immunologic paradigm in autoimmunity.

Curr Opin Immunol 2012 Oct 3;24(5):544-51. Epub 2012 Oct 3.

Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.coi.2012.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3489007PMC
October 2012

Systems and genome-wide approaches unite to provide a route to personalized medicine.

Genome Med 2012 30;4(3):29. Epub 2012 Mar 30.

Center for Systems Genomics, Pennsylvania State University, University Park, PA 16802, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/gm328DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446279PMC
August 2014

Alzheimer disease susceptibility loci: evidence for a protein network under natural selection.

Am J Hum Genet 2012 Apr;90(4):720-6

Program in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences Department of Neurology, Brigham and Women's Hospital, 77 Avenue Louis Pasteur, Boston, MA 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2012.02.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3322230PMC
April 2012

Progress and promise of genome-wide association studies for human complex trait genetics.

Genetics 2011 Feb 29;187(2):367-83. Epub 2010 Nov 29.

Division of Genetics, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.

View Article

Download full-text PDF

Source
http://www.genetics.org/cgi/doi/10.1534/genetics.110.120907
Publisher Site
http://dx.doi.org/10.1534/genetics.110.120907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3030483PMC
February 2011

Large-scale population study of human cell lines indicates that dosage compensation is virtually complete.

PLoS Genet 2008 Jan 13;4(1):e9. Epub 2007 Dec 13.

X Chromosome Group, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.0040009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2213701PMC
January 2008

Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.

Genome Biol 2007 ;8(10):R228

Computational Biology Group, Department of Applied Mathematics and Theoretical Physics, University of Cambridge, Centre for Mathematical Sciences, Wilberforce Road, Cambridge CB3 0WA, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/gb-2007-8-10-r228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2246302PMC
May 2008

Genome-wide detection and characterization of positive selection in human populations.

Authors:
Pardis C Sabeti Patrick Varilly Ben Fry Jason Lohmueller Elizabeth Hostetter Chris Cotsapas Xiaohui Xie Elizabeth H Byrne Steven A McCarroll Rachelle Gaudet Stephen F Schaffner Eric S Lander Kelly A Frazer Dennis G Ballinger David R Cox David A Hinds Laura L Stuve Richard A Gibbs John W Belmont Andrew Boudreau Paul Hardenbol Suzanne M Leal Shiran Pasternak David A Wheeler Thomas D Willis Fuli Yu Huanming Yang Changqing Zeng Yang Gao Haoran Hu Weitao Hu Chaohua Li Wei Lin Siqi Liu Hao Pan Xiaoli Tang Jian Wang Wei Wang Jun Yu Bo Zhang Qingrun Zhang Hongbin Zhao Hui Zhao Jun Zhou Stacey B Gabriel Rachel Barry Brendan Blumenstiel Amy Camargo Matthew Defelice Maura Faggart Mary Goyette Supriya Gupta Jamie Moore Huy Nguyen Robert C Onofrio Melissa Parkin Jessica Roy Erich Stahl Ellen Winchester Liuda Ziaugra David Altshuler Yan Shen Zhijian Yao Wei Huang Xun Chu Yungang He Li Jin Yangfan Liu Yayun Shen Weiwei Sun Haifeng Wang Yi Wang Ying Wang Xiaoyan Xiong Liang Xu Mary M Y Waye Stephen K W Tsui Hong Xue J Tze-Fei Wong Luana M Galver Jian-Bing Fan Kevin Gunderson Sarah S Murray Arnold R Oliphant Mark S Chee Alexandre Montpetit Fanny Chagnon Vincent Ferretti Martin Leboeuf Jean-François Olivier Michael S Phillips Stéphanie Roumy Clémentine Sallée Andrei Verner Thomas J Hudson Pui-Yan Kwok Dongmei Cai Daniel C Koboldt Raymond D Miller Ludmila Pawlikowska Patricia Taillon-Miller Ming Xiao Lap-Chee Tsui William Mak You Qiang Song Paul K H Tam Yusuke Nakamura Takahisa Kawaguchi Takuya Kitamoto Takashi Morizono Atsushi Nagashima Yozo Ohnishi Akihiro Sekine Toshihiro Tanaka Tatsuhiko Tsunoda Panos Deloukas Christine P Bird Marcos Delgado Emmanouil T Dermitzakis Rhian Gwilliam Sarah Hunt Jonathan Morrison Don Powell Barbara E Stranger Pamela Whittaker David R Bentley Mark J Daly Paul I W de Bakker Jeff Barrett Yves R Chretien Julian Maller Steve McCarroll Nick Patterson Itsik Pe'er Alkes Price Shaun Purcell Daniel J Richter Pardis Sabeti Richa Saxena Stephen F Schaffner Pak C Sham Patrick Varilly David Altshuler Lincoln D Stein Lalitha Krishnan Albert Vernon Smith Marcela K Tello-Ruiz Gudmundur A Thorisson Aravinda Chakravarti Peter E Chen David J Cutler Carl S Kashuk Shin Lin Gonçalo R Abecasis Weihua Guan Yun Li Heather M Munro Zhaohui Steve Qin Daryl J Thomas Gilean McVean Adam Auton Leonardo Bottolo Niall Cardin Susana Eyheramendy Colin Freeman Jonathan Marchini Simon Myers Chris Spencer Matthew Stephens Peter Donnelly Lon R Cardon Geraldine Clarke David M Evans Andrew P Morris Bruce S Weir Tatsuhiko Tsunoda Todd A Johnson James C Mullikin Stephen T Sherry Michael Feolo Andrew Skol Houcan Zhang Changqing Zeng Hui Zhao Ichiro Matsuda Yoshimitsu Fukushima Darryl R Macer Eiko Suda Charles N Rotimi Clement A Adebamowo Ike Ajayi Toyin Aniagwu Patricia A Marshall Chibuzor Nkwodimmah Charmaine D M Royal Mark F Leppert Missy Dixon Andy Peiffer Renzong Qiu Alastair Kent Kazuto Kato Norio Niikawa Isaac F Adewole Bartha M Knoppers Morris W Foster Ellen Wright Clayton Jessica Watkin Richard A Gibbs John W Belmont Donna Muzny Lynne Nazareth Erica Sodergren George M Weinstock David A Wheeler Imtaz Yakub Stacey B Gabriel Robert C Onofrio Daniel J Richter Liuda Ziaugra Bruce W Birren Mark J Daly David Altshuler Richard K Wilson Lucinda L Fulton Jane Rogers John Burton Nigel P Carter Christopher M Clee Mark Griffiths Matthew C Jones Kirsten McLay Robert W Plumb Mark T Ross Sarah K Sims David L Willey Zhu Chen Hua Han Le Kang Martin Godbout John C Wallenburg Paul L'Archevêque Guy Bellemare Koji Saeki Hongguang Wang Daochang An Hongbo Fu Qing Li Zhen Wang Renwu Wang Arthur L Holden Lisa D Brooks Jean E McEwen Mark S Guyer Vivian Ota Wang Jane L Peterson Michael Shi Jack Spiegel Lawrence M Sung Lynn F Zacharia Francis S Collins Karen Kennedy Ruth Jamieson John Stewart

Nature 2007 Oct;449(7164):913-8

Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA.

View Article

Download full-text PDF

Source
https://www.genome.gov/Pages/Newsroom/CurrentNewsReleases/Le
Web Search
http://www.nature.com/doifinder/10.1038/nature06250
Publisher Site
http://dx.doi.org/10.1038/nature06250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2687721PMC
October 2007

A second generation human haplotype map of over 3.1 million SNPs.

Authors:
Kelly A Frazer Dennis G Ballinger David R Cox David A Hinds Laura L Stuve Richard A Gibbs John W Belmont Andrew Boudreau Paul Hardenbol Suzanne M Leal Shiran Pasternak David A Wheeler Thomas D Willis Fuli Yu Huanming Yang Changqing Zeng Yang Gao Haoran Hu Weitao Hu Chaohua Li Wei Lin Siqi Liu Hao Pan Xiaoli Tang Jian Wang Wei Wang Jun Yu Bo Zhang Qingrun Zhang Hongbin Zhao Hui Zhao Jun Zhou Stacey B Gabriel Rachel Barry Brendan Blumenstiel Amy Camargo Matthew Defelice Maura Faggart Mary Goyette Supriya Gupta Jamie Moore Huy Nguyen Robert C Onofrio Melissa Parkin Jessica Roy Erich Stahl Ellen Winchester Liuda Ziaugra David Altshuler Yan Shen Zhijian Yao Wei Huang Xun Chu Yungang He Li Jin Yangfan Liu Yayun Shen Weiwei Sun Haifeng Wang Yi Wang Ying Wang Xiaoyan Xiong Liang Xu Mary M Y Waye Stephen K W Tsui Hong Xue J Tze-Fei Wong Luana M Galver Jian-Bing Fan Kevin Gunderson Sarah S Murray Arnold R Oliphant Mark S Chee Alexandre Montpetit Fanny Chagnon Vincent Ferretti Martin Leboeuf Jean-François Olivier Michael S Phillips Stéphanie Roumy Clémentine Sallée Andrei Verner Thomas J Hudson Pui-Yan Kwok Dongmei Cai Daniel C Koboldt Raymond D Miller Ludmila Pawlikowska Patricia Taillon-Miller Ming Xiao Lap-Chee Tsui William Mak You Qiang Song Paul K H Tam Yusuke Nakamura Takahisa Kawaguchi Takuya Kitamoto Takashi Morizono Atsushi Nagashima Yozo Ohnishi Akihiro Sekine Toshihiro Tanaka Tatsuhiko Tsunoda Panos Deloukas Christine P Bird Marcos Delgado Emmanouil T Dermitzakis Rhian Gwilliam Sarah Hunt Jonathan Morrison Don Powell Barbara E Stranger Pamela Whittaker David R Bentley Mark J Daly Paul I W de Bakker Jeff Barrett Yves R Chretien Julian Maller Steve McCarroll Nick Patterson Itsik Pe'er Alkes Price Shaun Purcell Daniel J Richter Pardis Sabeti Richa Saxena Stephen F Schaffner Pak C Sham Patrick Varilly David Altshuler Lincoln D Stein Lalitha Krishnan Albert Vernon Smith Marcela K Tello-Ruiz Gudmundur A Thorisson Aravinda Chakravarti Peter E Chen David J Cutler Carl S Kashuk Shin Lin Gonçalo R Abecasis Weihua Guan Yun Li Heather M Munro Zhaohui Steve Qin Daryl J Thomas Gilean McVean Adam Auton Leonardo Bottolo Niall Cardin Susana Eyheramendy Colin Freeman Jonathan Marchini Simon Myers Chris Spencer Matthew Stephens Peter Donnelly Lon R Cardon Geraldine Clarke David M Evans Andrew P Morris Bruce S Weir Tatsuhiko Tsunoda James C Mullikin Stephen T Sherry Michael Feolo Andrew Skol Houcan Zhang Changqing Zeng Hui Zhao Ichiro Matsuda Yoshimitsu Fukushima Darryl R Macer Eiko Suda Charles N Rotimi Clement A Adebamowo Ike Ajayi Toyin Aniagwu Patricia A Marshall Chibuzor Nkwodimmah Charmaine D M Royal Mark F Leppert Missy Dixon Andy Peiffer Renzong Qiu Alastair Kent Kazuto Kato Norio Niikawa Isaac F Adewole Bartha M Knoppers Morris W Foster Ellen Wright Clayton Jessica Watkin Richard A Gibbs John W Belmont Donna Muzny Lynne Nazareth Erica Sodergren George M Weinstock David A Wheeler Imtaz Yakub Stacey B Gabriel Robert C Onofrio Daniel J Richter Liuda Ziaugra Bruce W Birren Mark J Daly David Altshuler Richard K Wilson Lucinda L Fulton Jane Rogers John Burton Nigel P Carter Christopher M Clee Mark Griffiths Matthew C Jones Kirsten McLay Robert W Plumb Mark T Ross Sarah K Sims David L Willey Zhu Chen Hua Han Le Kang Martin Godbout John C Wallenburg Paul L'Archevêque Guy Bellemare Koji Saeki Hongguang Wang Daochang An Hongbo Fu Qing Li Zhen Wang Renwu Wang Arthur L Holden Lisa D Brooks Jean E McEwen Mark S Guyer Vivian Ota Wang Jane L Peterson Michael Shi Jack Spiegel Lawrence M Sung Lynn F Zacharia Francis S Collins Karen Kennedy Ruth Jamieson John Stewart

Nature 2007 Oct;449(7164):851-61

The Scripps Research Institute, 10550 North Torrey Pines Road MEM275, La Jolla, California 92037, USA.

View Article

Download full-text PDF

Source
https://www.genome.gov/Pages/Newsroom/CurrentNewsReleases/In
Web Search
http://www.nature.com/doifinder/10.1038/nature06258
Publisher Site
http://dx.doi.org/10.1038/nature06258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689609PMC
October 2007

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.

Authors:
Ewan Birney John A Stamatoyannopoulos Anindya Dutta Roderic Guigó Thomas R Gingeras Elliott H Margulies Zhiping Weng Michael Snyder Emmanouil T Dermitzakis Robert E Thurman Michael S Kuehn Christopher M Taylor Shane Neph Christoph M Koch Saurabh Asthana Ankit Malhotra Ivan Adzhubei Jason A Greenbaum Robert M Andrews Paul Flicek Patrick J Boyle Hua Cao Nigel P Carter Gayle K Clelland Sean Davis Nathan Day Pawandeep Dhami Shane C Dillon Michael O Dorschner Heike Fiegler Paul G Giresi Jeff Goldy Michael Hawrylycz Andrew Haydock Richard Humbert Keith D James Brett E Johnson Ericka M Johnson Tristan T Frum Elizabeth R Rosenzweig Neerja Karnani Kirsten Lee Gregory C Lefebvre Patrick A Navas Fidencio Neri Stephen C J Parker Peter J Sabo Richard Sandstrom Anthony Shafer David Vetrie Molly Weaver Sarah Wilcox Man Yu Francis S Collins Job Dekker Jason D Lieb Thomas D Tullius Gregory E Crawford Shamil Sunyaev William S Noble Ian Dunham France Denoeud Alexandre Reymond Philipp Kapranov Joel Rozowsky Deyou Zheng Robert Castelo Adam Frankish Jennifer Harrow Srinka Ghosh Albin Sandelin Ivo L Hofacker Robert Baertsch Damian Keefe Sujit Dike Jill Cheng Heather A Hirsch Edward A Sekinger Julien Lagarde Josep F Abril Atif Shahab Christoph Flamm Claudia Fried Jörg Hackermüller Jana Hertel Manja Lindemeyer Kristin Missal Andrea Tanzer Stefan Washietl Jan Korbel Olof Emanuelsson Jakob S Pedersen Nancy Holroyd Ruth Taylor David Swarbreck Nicholas Matthews Mark C Dickson Daryl J Thomas Matthew T Weirauch James Gilbert Jorg Drenkow Ian Bell XiaoDong Zhao K G Srinivasan Wing-Kin Sung Hong Sain Ooi Kuo Ping Chiu Sylvain Foissac Tyler Alioto Michael Brent Lior Pachter Michael L Tress Alfonso Valencia Siew Woh Choo Chiou Yu Choo Catherine Ucla Caroline Manzano Carine Wyss Evelyn Cheung Taane G Clark James B Brown Madhavan Ganesh Sandeep Patel Hari Tammana Jacqueline Chrast Charlotte N Henrichsen Chikatoshi Kai Jun Kawai Ugrappa Nagalakshmi Jiaqian Wu Zheng Lian Jin Lian Peter Newburger Xueqing Zhang Peter Bickel John S Mattick Piero Carninci Yoshihide Hayashizaki Sherman Weissman Tim Hubbard Richard M Myers Jane Rogers Peter F Stadler Todd M Lowe Chia-Lin Wei Yijun Ruan Kevin Struhl Mark Gerstein Stylianos E Antonarakis Yutao Fu Eric D Green Ulaş Karaöz Adam Siepel James Taylor Laura A Liefer Kris A Wetterstrand Peter J Good Elise A Feingold Mark S Guyer Gregory M Cooper George Asimenos Colin N Dewey Minmei Hou Sergey Nikolaev Juan I Montoya-Burgos Ari Löytynoja Simon Whelan Fabio Pardi Tim Massingham Haiyan Huang Nancy R Zhang Ian Holmes James C Mullikin Abel Ureta-Vidal Benedict Paten Michael Seringhaus Deanna Church Kate Rosenbloom W James Kent Eric A Stone Serafim Batzoglou Nick Goldman Ross C Hardison David Haussler Webb Miller Arend Sidow Nathan D Trinklein Zhengdong D Zhang Leah Barrera Rhona Stuart David C King Adam Ameur Stefan Enroth Mark C Bieda Jonghwan Kim Akshay A Bhinge Nan Jiang Jun Liu Fei Yao Vinsensius B Vega Charlie W H Lee Patrick Ng Atif Shahab Annie Yang Zarmik Moqtaderi Zhou Zhu Xiaoqin Xu Sharon Squazzo Matthew J Oberley David Inman Michael A Singer Todd A Richmond Kyle J Munn Alvaro Rada-Iglesias Ola Wallerman Jan Komorowski Joanna C Fowler Phillippe Couttet Alexander W Bruce Oliver M Dovey Peter D Ellis Cordelia F Langford David A Nix Ghia Euskirchen Stephen Hartman Alexander E Urban Peter Kraus Sara Van Calcar Nate Heintzman Tae Hoon Kim Kun Wang Chunxu Qu Gary Hon Rosa Luna Christopher K Glass M Geoff Rosenfeld Shelley Force Aldred Sara J Cooper Anason Halees Jane M Lin Hennady P Shulha Xiaoling Zhang Mousheng Xu Jaafar N S Haidar Yong Yu Yijun Ruan Vishwanath R Iyer Roland D Green Claes Wadelius Peggy J Farnham Bing Ren Rachel A Harte Angie S Hinrichs Heather Trumbower Hiram Clawson Jennifer Hillman-Jackson Ann S Zweig Kayla Smith Archana Thakkapallayil Galt Barber Robert M Kuhn Donna Karolchik Lluis Armengol Christine P Bird Paul I W de Bakker Andrew D Kern Nuria Lopez-Bigas Joel D Martin Barbara E Stranger Abigail Woodroffe Eugene Davydov Antigone Dimas Eduardo Eyras Ingileif B Hallgrímsdóttir Julian Huppert Michael C Zody Gonçalo R Abecasis Xavier Estivill Gerard G Bouffard Xiaobin Guan Nancy F Hansen Jacquelyn R Idol Valerie V B Maduro Baishali Maskeri Jennifer C McDowell Morgan Park Pamela J Thomas Alice C Young Robert W Blakesley Donna M Muzny Erica Sodergren David A Wheeler Kim C Worley Huaiyang Jiang George M Weinstock Richard A Gibbs Tina Graves Robert Fulton Elaine R Mardis Richard K Wilson Michele Clamp James Cuff Sante Gnerre David B Jaffe Jean L Chang Kerstin Lindblad-Toh Eric S Lander Maxim Koriabine Mikhail Nefedov Kazutoyo Osoegawa Yuko Yoshinaga Baoli Zhu Pieter J de Jong
June 2007

Functional variation and evolution of non-coding DNA.

Curr Opin Genet Dev 2006 Dec 19;16(6):559-64. Epub 2006 Oct 19.

The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, CB10 1SA, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gde.2006.10.003DOI Listing
December 2006

From DNA to RNA to disease and back: the 'central dogma' of regulatory disease variation.

Hum Genomics 2006 Jun;2(6):383-90

The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3525162PMC
http://dx.doi.org/10.1186/1479-7364-2-6-383DOI Listing
June 2006

Genetic variation in human gene expression.

Mamm Genome 2006 Jun 12;17(6):503-8. Epub 2006 Jun 12.

Division of Informatics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00335-006-0005-yDOI Listing
June 2006

The genetics of regulatory variation in the human genome.

Hum Genomics 2005 Jun;2(2):126-31

The Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3525257PMC
http://dx.doi.org/10.1186/1479-7364-2-2-126DOI Listing
June 2005

Nucleotide variation at the myrosinase-encoding locus, TGG1, and quantitative myrosinase enzyme activity variation in Arabidopsis thaliana.

Mol Ecol 2005 Jan;14(1):295-309

Department of Genetics and Evolution, Max Planck Institute of Chemical Ecology, Jena, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1365-294X.2004.02403.xDOI Listing
January 2005

Multilocus analysis of variation and speciation in the closely related species Arabidopsis halleri and A. lyrata.

Genetics 2004 Jan;166(1):373-88

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, 08028 Barcelona, Spain.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1470697PMC
http://dx.doi.org/10.1534/genetics.166.1.373DOI Listing
January 2004