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Refinado por: assunto: Humans remover
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1
Exome sequencing identifies the cause of a mendelian disorder
Exome sequencing identifies the cause of a mendelian disorder
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Exome sequencing identifies the cause of a mendelian disorder

Huff, Chad D ; Jabs, Ethylin Wang ; Shendure, Jay ; Tabor, Holly K ; Nickerson, Deborah A ; Bamshad, Michael J ; Buckingham, Kati J ; Bigham, Abigail W ; Shannon, Paul T ; Lee, Choli ; Dent, Karin M ; Ng, Sarah B

Nature genetics, 2010-01, Vol.42 (1), p.30-35 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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2
Evolutionary history of Tibetans inferred from whole-genome sequencing
Evolutionary history of Tibetans inferred from whole-genome sequencing
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Evolutionary history of Tibetans inferred from whole-genome sequencing

Hu, Hao ; Petousi, Nayia ; Glusman, Gustavo ; Yu, Yao ; Bohlender, Ryan ; Tashi, Tsewang ; Downie, Jonathan M ; Roach, Jared C ; Cole, Amy M ; Lorenzo, Felipe R ; Rogers, Alan R ; Brunkow, Mary E ; Cavalleri, Gianpiero ; Hood, Leroy ; Alpatty, Sama M ; Prchal, Josef T ; Jorde, Lynn B ; Robbins, Peter A ; Simonson, Tatum S ; Huff, Chad D Tishkoff, Sarah A.

PLoS genetics, 2017-04, Vol.13 (4), p.e1006675-e1006675 [Periódico revisado por pares]

United States: Public Library of Science

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3
Genetic Evidence for High-Altitude Adaptation in Tibet
Genetic Evidence for High-Altitude Adaptation in Tibet
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Genetic Evidence for High-Altitude Adaptation in Tibet

Simonson, Tatum S ; Yang, Yingzhong ; Huff, Chad D ; Yun, Haixia ; Qin, Ga ; Witherspoon, David J ; Bai, Zhenzhong ; Lorenzo, Felipe R ; Xing, Jinchuan ; Jorde, Lynn B ; Prchal, Josef T ; Ge, RiLi

Science (American Association for the Advancement of Science), 2010-07, Vol.329 (5987), p.72-75 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

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4
Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families
Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families
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Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

Singleton, Marc V. ; Guthery, Stephen L. ; Voelkerding, Karl V. ; Chen, Karin ; Kennedy, Brett ; Margraf, Rebecca L. ; Durtschi, Jacob ; Eilbeck, Karen ; Reese, Martin G. ; Jorde, Lynn B. ; Huff, Chad D. ; Yandell, Mark

American journal of human genetics, 2014-04, Vol.94 (4), p.599-610 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
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Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

Roach, Jared C ; Glusman, Gustavo ; Smit, Arian F.A ; Huff, Chad D ; Hubley, Robert ; Shannon, Paul T ; Rowen, Lee ; Pant, Krishna P ; Goodman, Nathan ; Bamshad, Michael ; Shendure, Jay ; Drmanac, Radoje ; Jorde, Lynn B ; Hood, Leroy ; Galas, David J

Science (American Association for the Advancement of Science), 2010-04, Vol.328 (5978), p.636-639 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

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6
Relationship estimation from whole-genome sequence data
Relationship estimation from whole-genome sequence data
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Relationship estimation from whole-genome sequence data

Li, Hong ; Glusman, Gustavo ; Hu, Hao ; Shankaracharya ; Caballero, Juan ; Hubley, Robert ; Witherspoon, David ; Guthery, Stephen L ; Mauldin, Denise E ; Jorde, Lynn B ; Hood, Leroy ; Roach, Jared C ; Huff, Chad D Visscher, Peter M.

PLoS genetics, 2014-01, Vol.10 (1), p.e1004144-e1004144 [Periódico revisado por pares]

United States: Public Library of Science

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7
The Relationship between Native American Ancestry, Body Mass Index and Diabetes Risk among Mexican-Americans
The Relationship between Native American Ancestry, Body Mass Index and Diabetes Risk among Mexican-Americans
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The Relationship between Native American Ancestry, Body Mass Index and Diabetes Risk among Mexican-Americans

Hu, Hao ; Huff, Chad D ; Yamamura, Yuko ; Wu, Xifeng ; Strom, Sara S Oleksyk, Taras K

PloS one, 2015-10, Vol.10 (10), p.e0141260-e0141260 [Periódico revisado por pares]

United States: Public Library of Science

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8
VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Conservation-Controlled Amino Acid Substitution Matrix
VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Conservation-Controlled Amino Acid Substitution Matrix
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VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Conservation-Controlled Amino Acid Substitution Matrix

Hu, Hao ; Huff, Chad D. ; Moore, Barry ; Flygare, Steven ; Reese, Martin G. ; Yandell, Mark

Genetic epidemiology, 2013-09, Vol.37 (6), p.622-634 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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9
Shared and unique signals of high-altitude adaptation in geographically distinct Tibetan populations
Shared and unique signals of high-altitude adaptation in geographically distinct Tibetan populations
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Shared and unique signals of high-altitude adaptation in geographically distinct Tibetan populations

Wuren, Tana ; Simonson, Tatum S ; Qin, Ga ; Xing, Jinchuan ; Huff, Chad D ; Witherspoon, David J ; Jorde, Lynn B ; Ge, Ri-Li O'Rourke, Dennis

PloS one, 2014-03, Vol.9 (3), p.e88252-e88252 [Periódico revisado por pares]

United States: Public Library of Science

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10
Mobile elements create structural variation: analysis of a complete human genome
Mobile elements create structural variation: analysis of a complete human genome
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Mobile elements create structural variation: analysis of a complete human genome

Xing, Jinchuan ; Zhang, Yuhua ; Han, Kyudong ; Salem, Abdel Halim ; Sen, Shurjo K ; Huff, Chad D ; Zhou, Qiong ; Kirkness, Ewen F ; Levy, Samuel ; Batzer, Mark A ; Jorde, Lynn B

Genome Research, 2009-09, Vol.19 (9), p.1516-1526 [Periódico revisado por pares]

United States: Cold Spring Harbor Laboratory Press

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