Publications by authors named "Konrad J Karczewski"

60Publications

Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.

Am J Hum Genet 2019 01;104(1):187-190

Cardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College Centre for Translational and Experimental Medicine, London, W12 0NN, UK; National Institute for Health Research Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, SW7 2AZ, UK; Medical Research Council London Institute of Medical Sciences, Imperial College London, London, W12 0NN, UK; Program in Medical and Population Genetics, Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323549PMC
January 2019

Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides.

Genome Res 2018 07 1;28(7):968-974. Epub 2018 Jun 1.

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1101/gr.231902.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028136PMC
July 2018

Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland.

Am J Hum Genet 2018 05 26;102(5):760-775. Epub 2018 Apr 26.

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki 00014, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986696PMC
May 2018

Integrative omics for health and disease.

Nat Rev Genet 2018 05 26;19(5):299-310. Epub 2018 Feb 26.

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

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http://www.nature.com/doifinder/10.1038/nrg.2018.4
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http://dx.doi.org/10.1038/nrg.2018.4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990367PMC
May 2018

Ten Simple Rules to Enable Multi-site Collaborations through Data Sharing.

PLoS Comput Biol 2017 01 19;13(1):e1005278. Epub 2017 Jan 19.

Department of Biomedical Informatics, Columbia University, New York, New York, United States of America.

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http://dx.doi.org/10.1371/journal.pcbi.1005278DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5245793PMC
January 2017

METHODS TO ENSURE THE REPRODUCIBILITY OF BIOMEDICAL RESEARCH.

Pac Symp Biocomput 2017 ;22:117-119

Massachusetts General Hospital, Boston, MA, USA2Broad Institute, Cambridge, MA, USA,

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http://dx.doi.org/10.1142/9789813207813_0012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5984201PMC
July 2017

Population-specific single-nucleotide polymorphism confers increased risk of venous thromboembolism in African Americans.

Mol Genet Genomic Med 2016 Sep 21;4(5):513-20. Epub 2016 Jun 21.

Department of GeneticsStanford University School of MedicineStanfordCalifornia94305; Department of BioengineeringStanford University School of MedicineStanfordCalifornia94305.

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http://dx.doi.org/10.1002/mgg3.226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023936PMC
September 2016

Analysis of protein-coding genetic variation in 60,706 humans.

Nature 2016 08;536(7616):285-91

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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http://www.nature.com/articles/nature19057
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http://dx.doi.org/10.1038/nature19057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018207PMC
August 2016

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.

Nat Genet 2016 10 17;48(10):1107-11. Epub 2016 Aug 17.

Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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http://dx.doi.org/10.1038/ng.3638DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042837PMC
October 2016

Quantifying prion disease penetrance using large population control cohorts.

Sci Transl Med 2016 Jan;8(322):322ra9

Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1126/scitranslmed.aad5169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774245PMC
January 2016

Genetic meta-analysis of 15,901 African Americans identifies variation in EXOC3L1 is associated with HDL concentration.

J Lipid Res 2015 Sep 21;56(9):1781-6. Epub 2015 Jul 21.

Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA Division of Transplantation, Department of Surgery, University of Pennsylvania, Philadelphia, PA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4548782PMC
http://dx.doi.org/10.1194/jlr.P059477DOI Listing
September 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:

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

Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci.

Authors:
Vinicius Tragante Michael R Barnes Santhi K Ganesh Matthew B Lanktree Wei Guo Nora Franceschini Erin N Smith Toby Johnson Michael V Holmes Sandosh Padmanabhan Konrad J Karczewski Berta Almoguera John Barnard Jens Baumert Yen-Pei Christy Chang Clara C Elbers Martin Farrall Mary E Fischer Tom R Gaunt Johannes M I H Gho Christian Gieger Anuj Goel Yan Gong Aaron Isaacs Marcus E Kleber Irene Mateo Leach Caitrin W McDonough Matthijs F L Meijs Olle Melander Christopher P Nelson Ilja M Nolte Nathan Pankratz Tom S Price Jonathan Shaffer Sonia Shah Maciej Tomaszewski Peter J van der Most Erik P A Van Iperen Judith M Vonk Kate Witkowska Caroline O L Wong Li Zhang Amber L Beitelshees Gerald S Berenson Deepak L Bhatt Morris Brown Amber Burt Rhonda M Cooper-DeHoff John M Connell Karen J Cruickshanks Sean P Curtis George Davey-Smith Christian Delles Ron T Gansevoort Xiuqing Guo Shen Haiqing Claire E Hastie Marten H Hofker G Kees Hovingh Daniel S Kim Susan A Kirkland Barbara E Klein Ronald Klein Yun R Li Steffi Maiwald Christopher Newton-Cheh Eoin T O'Brien N Charlotte Onland-Moret Walter Palmas Afshin Parsa Brenda W Penninx Mary Pettinger Ramachandran S Vasan Jane E Ranchalis Paul M Ridker Lynda M Rose Peter Sever Daichi Shimbo Laura Steele Ronald P Stolk Barbara Thorand Mieke D Trip Cornelia M van Duijn W Monique Verschuren Cisca Wijmenga Sharon Wyatt J Hunter Young Aeilko H Zwinderman Connie R Bezzina Eric Boerwinkle Juan P Casas Mark J Caulfield Aravinda Chakravarti Daniel I Chasman Karina W Davidson Pieter A Doevendans Anna F Dominiczak Garret A FitzGerald John G Gums Myriam Fornage Hakon Hakonarson Indrani Halder Hans L Hillege Thomas Illig Gail P Jarvik Julie A Johnson John J P Kastelein Wolfgang Koenig Meena Kumari Winfried März Sarah S Murray Jeffery R O'Connell Albertine J Oldehinkel James S Pankow Daniel J Rader Susan Redline Muredach P Reilly Eric E Schadt Kandice Kottke-Marchant Harold Snieder Michael Snyder Alice V Stanton Martin D Tobin André G Uitterlinden Pim van der Harst Yvonne T van der Schouw Nilesh J Samani Hugh Watkins Andrew D Johnson Alex P Reiner Xiaofeng Zhu Paul I W de Bakker Daniel Levy Folkert W Asselbergs Patricia B Munroe Brendan J Keating

Am J Hum Genet 2014 Mar 20;94(3):349-60. Epub 2014 Feb 20.

Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.12.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951943PMC
March 2014

Coherent functional modules improve transcription factor target identification, cooperativity prediction, and disease association.

PLoS Genet 2014 Feb 6;10(2):e1004122. Epub 2014 Feb 6.

Department of Biomedical Informatics, Department of Systems Biology, and Department of Medicine, Columbia University, New York, New York, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1004122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3916285PMC
February 2014

Mendelian randomization of blood lipids for coronary heart disease.

Eur Heart J 2015 Mar 27;36(9):539-50. Epub 2014 Jan 27.

Genetic Epidemiology Group, Institute of Cardiovacular Science, Faculty of Population Healh Sciences, University College London, 1-19 Torrington Place, London WC1E 6BT, UK Faculty of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, Keppel Street, London WC1E 7HT, UK.

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https://eurheartj.oxfordjournals.org/content/ehj/36/9/539.fu
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http://eurheartj.oxfordjournals.org/cgi/doi/10.1093/eurheart
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http://dx.doi.org/10.1093/eurheartj/eht571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4344957PMC
March 2015

STORMSeq: an open-source, user-friendly pipeline for processing personal genomics data in the cloud.

PLoS One 2014 15;9(1):e84860. Epub 2014 Jan 15.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0084860PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893165PMC
December 2014

Progress in genomics according to bingo: 2013 edition.

Genome Biol 2013 Dec 24;14(12):143. Epub 2013 Dec 24.

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http://dx.doi.org/10.1186/gb4148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4054833PMC
December 2013

Performance of genomic medicine.

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

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

Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations.

Hum Mol Genet 2014 May 17;23(9):2498-510. Epub 2013 Dec 17.

Gillings School of Global Public Health.

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http://hmg.oxfordjournals.org/content/23/9/2498.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddt626
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http://dx.doi.org/10.1093/hmg/ddt626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988452PMC
May 2014

A new system for comparative functional genomics of Saccharomyces yeasts.

Genetics 2013 Sep 12;195(1):275-87. Epub 2013 Jul 12.

Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada.

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http://dunham.gs.washington.edu/Caudy.pdf
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http://www.genetics.org/cgi/doi/10.1534/genetics.113.152918
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http://dx.doi.org/10.1534/genetics.113.152918DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3761308PMC
September 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.

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

The future of genomic medicine is here.

Genome Biol 2013 Mar 27;14(3):304. Epub 2013 Mar 27.

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http://dx.doi.org/10.1186/gb-2013-14-3-304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663104PMC
March 2013

Chapter 7: Pharmacogenomics.

PLoS Comput Biol 2012 27;8(12):e1002817. Epub 2012 Dec 27.

Program in Biomedical Informatics, Stanford University, Stanford, California, United States of America.

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http://dx.doi.org/10.1371/journal.pcbi.1002817DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3531317PMC
May 2013

Extensive genetic variation in somatic human tissues.

Proc Natl Acad Sci U S A 2012 Oct 5;109(44):18018-23. Epub 2012 Oct 5.

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

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http://dx.doi.org/10.1073/pnas.1213736109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3497787PMC
October 2012

Performance comparison of exome DNA sequencing technologies.

Nat Biotechnol 2011 Sep 25;29(10):908-14. Epub 2011 Sep 25.

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

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http://dx.doi.org/10.1038/nbt.1975DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4127531PMC
September 2011

Cooperative transcription factor associations discovered using regulatory variation.

Proc Natl Acad Sci U S A 2011 Aug 26;108(32):13353-8. Epub 2011 Jul 26.

Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.

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http://www.pnas.org/lookup/doi/10.1073/pnas.1103105108
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http://dx.doi.org/10.1073/pnas.1103105108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156166PMC
August 2011

Regulatory variation within and between species.

Annu Rev Genomics Hum Genet 2011 ;12:327-46

Department of Molecular, Cellular, and Developmental Biology, Biostatics Resources, Keck Laboratory, Yale University, New Haven, Connecticut 06520, USA.

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http://dx.doi.org/10.1146/annurev-genom-082908-150139DOI Listing
October 2011

Bioinformatics challenges for personalized medicine.

Bioinformatics 2011 Jul 19;27(13):1741-8. Epub 2011 May 19.

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

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http://dx.doi.org/10.1093/bioinformatics/btr295DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3117361PMC
July 2011