Effect of predicted protein-truncating genetic variants on the human transcriptome

Science

Volumn 348, Issue 6235, 2015, Pages 666-669

  Rivas, Manuel A ^a   Pirinen, Matti ^b   Conrad, Donald F ^c   Lek, Monkol ^d,e   Tsang, Emily K ^f   Karczewski, Konrad J ^d,e   Maller, Julian B ^d,e   Kukurba, Kimberly R ^f   DeLuca, David S ^d   Fromer, Menachem ^d,e,g   Ferreira, Pedro G ^h,i   Smith, Kevin S ^f   Zhang, Rui ^f   Zhao, Fengmei ^d,e   Banks, Eric ^d   Poplin, Ryan ^d   Ruderfer, Douglas M ^g,j   Purcell, Shaun M ^d,e,g,j   Tukiainen, Taru ^d,e   Minikel, Eric V ^d,e   Stenson, Peter D ^k   Cooper, David N ^k   Huang, Katharine H ^d   Sullivan, Timothy J ^d   Nedzel, Jared ^d   Bustamante, Carlos D ^f   Li, Jin Billy ^f   Daly, Mark J ^d,e   Guigo, Roderic ^a,e   Donnelly, Peter ^a,m   Ardlie, Kristin ^d   Sammeth, Michael ^l,n   Dermitzakis, Emmanouil T ^h,i   McCarthy, Mark I ^a,o   Montgomery, Stephen B ^f   Lappalainen, Tuuli ^f,h,i,p,q   MacArthur, Daniel G ^d,e,r   more..

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF HELSINKI   (Finland)

^c WASHINGTON UNIVERSITY   (United States)

^d BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f STANFORD UNIVERSITY   (United States)

^g MOUNT SINAI HOSPITAL   (United States)

^h UNIVERSITY OF GENEVA   (Switzerland)

ⁱ SWISS INSTITUTE OF BIOINFORMATICS   (Switzerland)

^j MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^k CARDIFF UNIVERSITY   (United Kingdom)

^l UNIVERSITAT POMPEU FABRA   (Spain)

^m UNIVERSITY OF OXFORD   (United Kingdom)

ⁿ LABORATÓRIO NACIONAL DE COMPUTAÇÃO CIENTÍFICA   (Brazil)

^o UNIVERSITY OF OXFORD   (United Kingdom)

^p NEW YORK GENOME CENTER   (United States)

^q Och Spine at New York Presbyterian Hospitals   (United States)

^r HARVARD MEDICAL SCHOOL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; TRANSCRIPTOME;

ENZYME ACTIVITY; GENE EXPRESSION; GENETIC ANALYSIS; GENOME; PROTEIN;

ALLELE; ARTICLE; GENE FUNCTION; GENE INACTIVATION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; PRIORITY JOURNAL; PROTEIN TRUNCATING GENETIC VARIANT; UPREGULATION; ALTERNATIVE RNA SPLICING; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE SILENCING; GENETIC VARIATION; GENETICS; HUMAN GENOME; NONSENSE MEDIATED MRNA DECAY; PHENOTYPE;

ALTERNATIVE SPLICING; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE SILENCING; GENETIC VARIATION; GENOME, HUMAN; HETEROZYGOTE; HUMANS; NONSENSE MEDIATED MRNA DECAY; PHENOTYPE; PROTEINS; TRANSCRIPTOME;

EID: 84929015299     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.1261877     Document Type: Article

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