Stephen B Montgomery

Stephen B Montgomery

UNVERIFIED PROFILE

Are you Stephen B Montgomery?   Register this Author

Register author
Stephen B Montgomery

Stephen B Montgomery

Publications by authors named "Stephen B Montgomery"

Are you Stephen B Montgomery?   Register this Author

90Publications

2732Reads

50Profile Views

Identifying causal variants and genes using functional genomics in specialized cell types and contexts.

Hum Genet 2019 Jul 17. Epub 2019 Jul 17.

Department of Pathology, Stanford University, Stanford, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-019-02044-2DOI Listing
July 2019

Identification of 22 novel loci associated with urinary biomarkers of albumin, sodium, and potassium excretion.

Kidney Int 2019 May 12;95(5):1197-1208. Epub 2019 Mar 12.

Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, California, USA; Stanford Cardiovascular Institute, Stanford University, Stanford, California, USA; Department of Medical Sciences, Molecular Epidemiology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00852538193004
Publisher Site
http://dx.doi.org/10.1016/j.kint.2018.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6535090PMC
May 2019

Abundant associations with gene expression complicate GWAS follow-up.

Nat Genet 2019 05;51(5):768-769

Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41588-019-0404-0DOI Listing
May 2019

Proficiency Testing of Standardized Samples Shows Very High Interlaboratory Agreement for Clinical Next-Generation Sequencing-Based Oncology Assays.

Arch Pathol Lab Med 2019 Apr 30;143(4):463-471. Epub 2018 Oct 30.

From the Departments of Pathology and Laboratory Medicine & Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina School of Medicine, Chapel Hill (Dr Merker); the Departments of Pathology (Drs Devereaux and Montgomery, and Mr Smail) and Genetics (Dr Montgomery), Stanford University School of Medicine, and the Biomedical Informatics Program (Mr Smail), Stanford University, Stanford, California; the Department of Pathology, Massachusetts General Hospital (Dr Iafrate), and the Department of Pathology, Brigham and Women's Hospital (Drs Kim and Lindeman), Harvard University, Boston; the Departments of Pathology and Clinical Laboratory Genetics, The University Health Network and the University of Toronto, Toronto, Ontario, Canada (Dr Kamel-Reid); the Department of Pathology, Walter Reed National Military Medical Center, Bethesda, Maryland (Dr Moncur); PierianDx, St Louis, Missouri (Dr Nagarajan); the Department of Global Medical Affairs, Roche, Tucson, Arizona (Dr Portier); the Departments of Hematopathology (Dr Routbort) and Pathology, Genomic Medicine, and Translational Molecular Pathology (Dr Lazar), he University of Texas MD Anderson Cancer Center, Houston (Dr Routbort); the Department of Pathology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia (Dr Surrey); and Proficiency Testing, College of American Pathologists, Northfield, Illinois (Ms Vasalos).

View Article

Download full-text PDF

Source
http://www.archivesofpathology.org/doi/10.5858/arpa.2018-033
Publisher Site
http://dx.doi.org/10.5858/arpa.2018-0336-CPDOI Listing
April 2019

Diagnosing rare diseases after the exome.

Cold Spring Harb Mol Case Stud 2018 12 17;4(6). Epub 2018 Dec 17.

Department of Pathology, Stanford University, Stanford, California 94305, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/mcs.a003392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318767PMC
December 2018

Genetic Regulatory Mechanisms of Smooth Muscle Cells Map to Coronary Artery Disease Risk Loci.

Am J Hum Genet 2018 09 23;103(3):377-388. Epub 2018 Aug 23.

Cardiovascular Institute, Stanford School of Medicine, 300 Pasteur Drive, Stanford, CA 94305, USA; Department of Medicine, Stanford University, Stanford, CA 94305, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128252PMC
September 2018

Recurrently Mutated Genes Differ between Leptomeningeal and Solid Lung Cancer Brain Metastases.

J Thorac Oncol 2018 07 29;13(7):1022-1027. Epub 2018 Mar 29.

Department of Neurosurgery, Stanford University School of Medicine, Stanford, California. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jtho.2018.03.018DOI Listing
July 2018

Non-Coding Loss-of-Function Variation in Human Genomes.

Hum Hered 2016 12;81(2):78-87. Epub 2017 Jan 12.

Department of Genetics, Stanford University, Stanford, Calif., USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000447453DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5499665PMC
June 2017

The impact of structural variation on human gene expression.

Nat Genet 2017 May 3;49(5):692-699. Epub 2017 Apr 3.

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.3834DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5406250PMC
May 2017

Overexpression of the Cytokine BAFF and Autoimmunity Risk.

N Engl J Med 2017 04;376(17):1615-1626

From Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche Monserrato (M.S., V.O., M.L.I., M. Pitzalis, M. Pala, C.S., V.F., M.F., M. Deiana, I.A., E.P., A. Mulas, M.G.P., M. Lobina, S.L., Mara Marongiu, V.S., Michele Marongiu, G.S., F.B., A. Maschio, F.D., M. Dei, F.V., S.O., A.A., M.B.W., A. Meloni, S. Sanna, E.F., M.Z., F.C.), Center for Advanced Studies, Research, and Development in Sardinia, Parco Scientifico e Tecnologico della Sardegna (I.Z., M.F., R.C., G. Cuccuru), Struttura Complessa Disciplina di Ematologia e Centro Trapianto Cellule Staminali Emopoietiche Wilma Deplano, Ospedale Oncologico di Riferimento Regionale Armando Businco (M. Pani), Dipartimento di Sanità Pubblica, Medicina Clinica e Molecolare, Università di Cagliari (E.C., J.F., G. Coghe, L.L., G. Fenu), Azienda Ospedaliera Brotzu, S.C. Neurologia (P.F., M. Melis), Division of Rheumatology, University and University Hospital of Cagliari (M. Piga, A. Mathieu), Department of Medical Sciences M. Aresu, University of Cagliari (D.F., S.D.G., M.G.M.), Azienda Ospedaliera Brotzu, U.S. Gastroenterologia Pediatrica Ospedale Pediatrico Microcitemico A. Cao (M.C.), and Nephrology, Dialysis, and Transplantation Unit, Giuseppe Brotzu Hospital (A.P.), Cagliari, Dipartimento di Scienze Biomediche, Università degli Studi di Sassari (M.F., F.P., F.C.), Unit of Neurology, Department of Clinical and Experimental Medicine, University of Sassari (G. Farina, G.R.), and Servizio Trasfusionale (M.A.S.) and Clinica Medica (A.D.), Azienda Ospedaliero Universitaria di Sassari, Sassari, Neurology B, Department of Neurological, Biomedical, and Movement Sciences, University of Verona, Verona (G. Farina), Department of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases, University of Eastern Piedmont, Novara (N.B., S.D.), SC Neurologia, Dipartimento di Scienze Mediche, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS) Casa Sollievo della Sofferenza, San Giovanni Rotondo (M. Leone), Don C. Gnocchi Foundation IRCCS (F.R.G.), and Referral Center for Systemic Autoimmune Diseases Fondazione IRCCS Cá Granda Ospedale Maggiore Policlinico and University of Milan (M. Marchini), Milan, and Dipartimento di Scienze Cliniche e Molecolari, Università Politecnica delle Marche e Ospedali Riuniti, Ancona (M.G.D.) - all in Italy; Laboratory of Genetics and Genomics, National Institute on Aging, National Institutes of Health, Baltimore (M.L.I., M.G., D.S.); the Department of Clinical Neurosciences (M.B., S. Sawcer) and JDRF-Wellcome Trust Diabetes and Inflammation Laboratory, National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge Institute for Medical Research (J.A.T.), University of Cambridge, Cambridge, United Kingdom; Department of Clinical Neuroscience, Karolinska Institutet at Karolinska University Hospital Solna (I.K., I.L.B., T.O., J.H.), Institute of Environmental Medicine (L.A.) and Institute of Environmental Medicine, Unit of Immunology and Chronic Disease (M.E.A.R.), Karolinska Institute, and Center for Occupational and Environmental Medicine, Stockholm County Council (L.A.), Stockholm; Department of Functional Biology, University of Oviedo, Oviedo (A.S.), Rheumatology Department, Hospital Universitario 12 de Octubre, Madrid (P.E.C.), Department of Internal Medicine, Hospital Universitario Virgen del Rocío, Seville (M.J.C.-P.), Laboratorio de Investigacion 10 and Rheumatology Unit, Instituto de Investigacion Sanitaria-Hospital Clinico Universitario de Santiago, Santiago de Compostela (A.G.), and Centro de Genómica e Investigación Oncológica, Pfizer-Universidad de Granada-Junta de Andalucía, Granada (M.E.A.R.) - all in Spain; Department of Human Genetics, University of Chicago, Chicago (J.H.M., J.N.); Centro Hospitalar do Porto-Hospital Santo Antonio and Unit for Multidisciplinary Research in Biomedicine-Unidade Multidisciplinar de Investigação Biomédica, Porto, Portugal (B.M.S.); Departments of Pathology and Genetics, Stanford University, Stanford, CA (S.B.M.); and Center for Statistical Genetics, University of Michigan, Ann Arbor (G.R.A.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1610528DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5605835PMC
April 2017

Impact of the X Chromosome and sex on regulatory variation.

Genome Res 2016 06 21;26(6):768-77. Epub 2016 Apr 21.

Department of Pathology, Stanford University School of Medicine, Stanford, California 94305, USA; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA; Department of Computer Science, Stanford University, Stanford, California 94305, USA;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/gr.197897.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4889977PMC
June 2016

ORegAnno 3.0: a community-driven resource for curated regulatory annotation.

Nucleic Acids Res 2016 Jan 17;44(D1):D126-32. Epub 2015 Nov 17.

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, USA Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63110, USA Department of Medicine, Division of Oncology, Washington University School of Medicine, St. Louis, MO 63110, USA

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/nar/gkv1203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4702855PMC
January 2016

An Efficient Multiple-Testing Adjustment for eQTL Studies that Accounts for Linkage Disequilibrium between Variants.

Am J Hum Genet 2016 Jan 31;98(1):216-24. Epub 2015 Dec 31.

Department of Genetics, Stanford University, Stanford, CA 94305, USA; Department of Pathology, Stanford University, Stanford, CA 94305, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2015.11.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716687PMC
January 2016

High-resolution transcriptome analysis with long-read RNA sequencing.

PLoS One 2014 24;9(9):e108095. Epub 2014 Sep 24.

Department of Computer Science, Stanford University, Stanford, California, United States of America; Department of Genetics, Stanford University, Stanford, California, United States of America; Department of Pathology, Stanford University, Stanford, California, United States of America.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0108095PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4176000PMC
June 2015

RNA Sequencing and Analysis.

Cold Spring Harb Protoc 2015 Apr 13;2015(11):951-69. Epub 2015 Apr 13.

Department of Pathology, Stanford University School of Medicine, Stanford, California 94305; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305; Department of Computer Science, Stanford University School of Medicine, Stanford, California 94305.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/pdb.top084970DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863231PMC
April 2015

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing.

PLoS Genet 2015 Jan 29;11(1):e1004958. Epub 2015 Jan 29.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; Institute of Genetics and Genomics in Geneva (iGE3), Geneva, Switzerland; Swiss Institute of Bioinformatics (SIB), Geneva, Switzerland; Center of Excellence in Genomic Medicine Research, KingAbdulaziz University, Jeddah, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1004958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310612PMC
January 2015

Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants.

Am J Hum Genet 2014 Sep;95(3):245-56

Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Computer Science, Stanford University, Stanford, CA 94305, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297140034
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2014.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157143PMC
September 2014

Cis and trans effects of human genomic variants on gene expression.

PLoS Genet 2014 Jul 10;10(7):e1004461. Epub 2014 Jul 10.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; Institute of Genetics and Genomics in Geneva (iGE3), Geneva, Switzerland; Swiss Institute of Bioinformatics (SIB), Geneva, Switzerland; Center of Excellence for Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1004461DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4091791PMC
July 2014

Dissecting the causal genetic mechanisms of coronary heart disease.

Curr Atheroscler Rep 2014 May;16(5):406

Department of Medicine, Division of Cardiovascular Medicine, Cardiovascular Institute, Stanford University, 300 Pasteur Drive, Stanford, CA, 94305-5233, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11883-014-0406-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015632PMC
May 2014

Allelic expression of deleterious protein-coding variants across human tissues.

PLoS Genet 2014 May 1;10(5):e1004304. Epub 2014 May 1.

Department of Pathology, Stanford University School of Medicine, Stanford, California, United States of America; Department of Genetics, Stanford University School of Medicine, Stanford, California, United States of America; Department of Computer Science, Stanford University School of Medicine, Stanford, California, United States of America.

View Article

Download full-text PDF

Source
http://dx.plos.org/10.1371/journal.pgen.1004304
Publisher Site
http://dx.doi.org/10.1371/journal.pgen.1004304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006732PMC
May 2014

SplicePlot: a utility for visualizing splicing quantitative trait loci.

Bioinformatics 2014 Apr 19;30(7):1025-6. Epub 2013 Dec 19.

Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305-5324, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/bioinformatics/btt733DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3967110PMC
April 2014

Quantifying RNA allelic ratios by microfluidic multiplex PCR and sequencing.

Nat Methods 2014 Jan 24;11(1):51-4. Epub 2013 Nov 24.

Department of Genetics, Stanford University, Stanford, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nmeth.2736DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3877737PMC
January 2014

Performance of genomic medicine.

Genome Biol 2013 Dec 23;14(12):316. Epub 2013 Dec 23.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/gb4146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4053936PMC
December 2013

Systematic functional regulatory assessment of disease-associated variants.

Proc Natl Acad Sci U S A 2013 Jun 20;110(23):9607-12. Epub 2013 May 20.

Biomedical Informatics Training Program, Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1219099110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3677437PMC
June 2013

Detection and impact of rare regulatory variants in human disease.

Front Genet 2013 31;4:67. Epub 2013 May 31.

Department of Pathology, Stanford University School of Medicine Stanford, CA, USA ; Department of Genetics, Stanford University School of Medicine Stanford, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2013.00067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3668132PMC
June 2013

Passive and active DNA methylation and the interplay with genetic variation in gene regulation.

Elife 2013 Jun 4;2:e00523. Epub 2013 Jun 4.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; Institute of Genetics and Genomics in Geneva, Geneva, Switzerland [corrected]; Swiss Institute of Bioinformatics, Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7554/eLife.00523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3673336PMC
June 2013

Integrating GWAS and expression data for functional characterization of disease-associated SNPs: an application to follicular lymphoma.

Am J Hum Genet 2013 Jan 13;92(1):126-30. Epub 2012 Dec 13.

Division of Environmental Health Sciences, School of Public Health, University of California, Berkeley, Berkeley, CA 94720-7360, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2012.11.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542469PMC
January 2013

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.

Authors:
Lavinia Paternoster Marie Standl Chih-Mei Chen Adaikalavan Ramasamy Klaus Bønnelykke Liesbeth Duijts Manuel A Ferreira Alexessander Couto Alves Jacob P Thyssen Eva Albrecht Hansjörg Baurecht Bjarke Feenstra Patrick M A Sleiman Pirro Hysi Nicole M Warrington Ivan Curjuric Ronny Myhre John A Curtin Maria M Groen-Blokhuis Marjan Kerkhof Annika Sääf Andre Franke David Ellinghaus Regina Fölster-Holst Emmanouil Dermitzakis Stephen B Montgomery Holger Prokisch Katharina Heim Anna-Liisa Hartikainen Anneli Pouta Juha Pekkanen Alexandra I F Blakemore Jessica L Buxton Marika Kaakinen David L Duffy Pamela A Madden Andrew C Heath Grant W Montgomery Philip J Thompson Melanie C Matheson Peter Le Souëf Beate St Pourcain George Davey Smith John Henderson John P Kemp Nicholas J Timpson Panos Deloukas Susan M Ring H-Erich Wichmann Martina Müller-Nurasyid Natalija Novak Norman Klopp Elke Rodríguez Wendy McArdle Allan Linneberg Torkil Menné Ellen A Nohr Albert Hofman André G Uitterlinden Cornélia M van Duijn Fernando Rivadeneira Johan C de Jongste Ralf J P van der Valk Matthias Wjst Rain Jogi Frank Geller Heather A Boyd Jeffrey C Murray Cecilia Kim Frank Mentch Michael March Massimo Mangino Tim D Spector Veronique Bataille Craig E Pennell Patrick G Holt Peter Sly Carla M T Tiesler Elisabeth Thiering Thomas Illig Medea Imboden Wenche Nystad Angela Simpson Jouke-Jan Hottenga Dirkje Postma Gerard H Koppelman Henriette A Smit Cilla Söderhäll Bo Chawes Eskil Kreiner-Møller Hans Bisgaard Erik Melén Dorret I Boomsma Adnan Custovic Bo Jacobsson Nicole M Probst-Hensch Lyle J Palmer Daniel Glass Hakon Hakonarson Mads Melbye Deborah L Jarvis Vincent W V Jaddoe Christian Gieger David P Strachan Nicholas G Martin Marjo-Riitta Jarvelin Joachim Heinrich David M Evans Stephan Weidinger

Nat Genet 2011 Dec 25;44(2):187-92. Epub 2011 Dec 25.

Medical Research Council Centre for Causal Analyses in Translational Epidemiology, University of Bristol, Bristol, UK.

View Article

Download full-text PDF

Source
http://www.tweelingenregister.org/nederlands/verslaggeving/N
Web Search
http://www.nature.com/doifinder/10.1038/ng.1017
Publisher Site
http://dx.doi.org/10.1038/ng.1017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272375PMC
December 2011

DNA methylation profiles of human active and inactive X chromosomes.

Genome Res 2011 Oct 23;21(10):1592-600. Epub 2011 Aug 23.

Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva 4, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/gr.112680.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3202277PMC
October 2011

Epistatic selection between coding and regulatory variation in human evolution and disease.

Am J Hum Genet 2011 Sep;89(3):459-63

Department of Genetic Medicine and Development, University of Geneva Medical School, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2011.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3169828PMC
September 2011

Rare and common regulatory variation in population-scale sequenced human genomes.

PLoS Genet 2011 Jul 21;7(7):e1002144. Epub 2011 Jul 21.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1002144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141000PMC
July 2011

Out of the sequencer and into the wiki as we face new challenges in genome informatics.

Genome Biol 2010 28;11(10):308. Epub 2010 Oct 28.

Sequencing Informatics, The Wellcome Trust Sanger Institute, Hinxton, Cambridge CB101SA, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/gb-2010-11-10-308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3218654PMC
June 2011

From expression QTLs to personalized transcriptomics.

Nat Rev Genet 2011 04 9;12(4):277-82. Epub 2011 Mar 9.

Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel-Servet, Geneva 1211, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrg2969DOI Listing
April 2011

Annotating the regulatory genome.

Methods Mol Biol 2010 ;674:313-49

Wellcome Trust Sanger Institute, Cambridge, UK.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/978-1-60761-854-6_20
Publisher Site
http://dx.doi.org/10.1007/978-1-60761-854-6_20DOI Listing
December 2010

Integrating common and rare genetic variation in diverse human populations.

Nature 2010 Sep;467(7311):52-8

Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02138, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nature09298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3173859PMC
September 2010

Transcriptome genetics using second generation sequencing in a Caucasian population.

Nature 2010 Apr 10;464(7289):773-7. Epub 2010 Mar 10.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, 1211 Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nature08903DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3836232PMC
April 2010

The resolution of the genetics of gene expression.

Hum Mol Genet 2009 Oct;18(R2):R211-5

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva CH-1211, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddp400DOI Listing
October 2009

Text-mining assisted regulatory annotation.

Genome Biol 2008 13;9(2):R31. Epub 2008 Feb 13.

Laboratory of Neurogenetics, Department of Molecular and Developmental Genetics, VIB, Leuven, B-3000, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/gb-2008-9-2-r31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2374703PMC
May 2008

A survey of genomic properties for the detection of regulatory polymorphisms.

PLoS Comput Biol 2007 Jun 25;3(6):e106. Epub 2007 Apr 25.

Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.plos.org/10.1371/journal.pcbi.0030106
Publisher Site
http://dx.doi.org/10.1371/journal.pcbi.0030106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1892352PMC
June 2007