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Refinado por: assunto: Genetic Variation remover
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In silico prediction of splice-altering single nucleotide variants in the human genome
In silico prediction of splice-altering single nucleotide variants in the human genome
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In silico prediction of splice-altering single nucleotide variants in the human genome

Jian, Xueqiu ; Boerwinkle, Eric ; Liu, Xiaoming

Nucleic acids research, 2014-12, Vol.42 (22), p.13534-13544 [Periódico revisado por pares]

England: Oxford University Press

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ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies
ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies
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ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies

Liu, Yaowu ; Chen, Sixing ; Li, Zilin ; Morrison, Alanna C ; Boerwinkle, Eric ; Lin, Xihong

American journal of human genetics, 2019-03, Vol.104 (3), p.410-421 [Periódico revisado por pares]

United States: Elsevier

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3
Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease
Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease
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Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease

Cohen, Jonathan C ; Hobbs, Helen H ; Romeo, Stefano ; Kozlitina, Julia ; Xing, Chao ; Pertsemlidis, Alexander ; Cox, David ; Pennacchio, Len A ; Boerwinkle, Eric

Nature genetics, 2008-12, Vol.40 (12), p.1461-1465 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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4
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans
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Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans

Romeo, Stefano ; Yin, Wu ; Kozlitina, Julia ; Pennacchio, Len A ; Boerwinkle, Eric ; Hobbs, Helen H ; Cohen, Jonathan C

The Journal of clinical investigation, 2009-01, Vol.119 (1), p.70-79 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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5
Clan Genomics and the Complex Architecture of Human Disease
Clan Genomics and the Complex Architecture of Human Disease
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Clan Genomics and the Complex Architecture of Human Disease

Lupski, James R. ; Belmont, John W. ; Boerwinkle, Eric ; Gibbs, Richard A.

Cell, 2011-09, Vol.147 (1), p.32-43 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Posey, Jennifer E ; Harel, Tamar ; Liu, Pengfei ; Rosenfeld, Jill A ; James, Regis A ; Coban Akdemir, Zeynep H ; Walkiewicz, Magdalena ; Bi, Weimin ; Xiao, Rui ; Ding, Yan ; Xia, Fan ; Beaudet, Arthur L ; Muzny, Donna M ; Gibbs, Richard A ; Boerwinkle, Eric ; Eng, Christine M ; Sutton, V. Reid ; Shaw, Chad A ; Plon, Sharon E ; Yang, Yaping ; Lupski, James R

The New England journal of medicine, 2017-01, Vol.376 (1), p.21-31 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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7
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
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Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

Tennessen, Jacob A. ; Bigham, Abigail W. ; O'Connor, Timothy D. ; Fu, Wenqing ; Kenny, Eimear E. ; Gravel, Simon ; McGee, Sean ; Do, Ron ; Liu, Xiaoming ; Jun, Goo ; Kang, Hyun Min ; Jordan, Daniel ; Leal, Suzanne M. ; Gabriel, Stacey ; Rieder, Mark J. ; Abecasis, Goncalo ; Altshuler, David ; Nickerson, Deborah A. ; Boerwinkle, Eric ; Sunyaev, Shamil ; Bustamante, Carlos D. ; Bamshad, Michael J. ; Akey, Joshua M.

Science (American Association for the Advancement of Science), 2012-07, Vol.337 (6090), p.64-69 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

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8
Genome partitioning of genetic variation for complex traits using common SNPs
Genome partitioning of genetic variation for complex traits using common SNPs
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Genome partitioning of genetic variation for complex traits using common SNPs

JIAN YANG ; MANOLIO, Teri A ; HILL, William G ; LANDI, Maria Teresa ; ALONSO, Alvaro ; LETTRE, Guillaume ; PENG LIN ; HUA LING ; LOWE, William ; MATHIAS, Rasika A ; MELBYE, Mads ; PUGH, Elizabeth ; PASQUALE, Louis R ; CORNELIS, Marilyn C ; WEIR, Bruce S ; GODDARD, Michael E ; VISSCHER, Peter M ; BOERWINKLE, Eric ; CAPORASO, Neil ; CUNNINGHAM, Julie M ; DE ANDRADE, Mariza ; FEENSTRA, Bjarke ; FEINGOLD, Eleanor ; HAYES, M. Geoffrey

Nature genetics, 2011-06, Vol.43 (6), p.519-525 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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9
Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis
Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis
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Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis

Yazdani, Akram ; Yazdani, Azam ; Liu, Xiaoming ; Boerwinkle, Eric

Genetic epidemiology, 2016-09, Vol.40 (6), p.486-491 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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10
Neutral genomic regions refine models of recent rapid human population growth
Neutral genomic regions refine models of recent rapid human population growth
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Neutral genomic regions refine models of recent rapid human population growth

Gazave, Elodie ; Li Ma ; Chang, Diana ; Coventry, Alex ; Gao, Feng ; Muzny, Donna ; Boerwinkle, Eric ; Gibbs, Richard A. ; Sing, Charles F. ; Clark, Andrew G. ; Keinan, Alon

Proceedings of the National Academy of Sciences - PNAS, 2014-01, Vol.111 (2), p.757-762 [Periódico revisado por pares]

United States: National Academy of Sciences

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