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

Manuel A. Rivas; Matti Pirinen; Donald F. Conrad; Monkol Lek; Emily K. Tsang; Konrad J. Karczewski; Julian B. Maller; Kimberly R. Kukurba; David S. DeLuca; Menachem Fromer; Pedro G. Ferreira; Kevin S. Smith; Rui Zhang; Fengmei Zhao; Eric Banks; Ryan Poplin; Douglas M. Ruderfer; Shaun M. Purcell; Taru Tukiainen; Eric V. Minikel; Peter D. Stenson; David N. Cooper; Katharine H. Huang; Timothy J. Sullivan; Jared Nedzel; Carlos D. Bustamante; Jin Billy Li; Mark J. Daly; Roderic Guigo; Peter Donnelly; Kristin Ardlie; Michael Sammeth; Emmanouil T. Dermitzakis; Mark I. McCarthy; Stephen B. Montgomery; Tuuli Lappalainen; Daniel G. MacArthur; GTEx Consortium; GEUVADIS Consortium

doi:10.1126/science.1261877

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

Manuel A. Rivas, Matti Pirinen, Donald F. Conrad, Monkol Lek, Emily K. Tsang, Konrad J. Karczewski, Julian B. Maller, Kimberly R. Kukurba, David S. DeLuca, Menachem Fromer, Pedro G. Ferreira, Kevin S. Smith, Rui Zhang, Fengmei Zhao, Eric Banks, Ryan Poplin, Douglas M. Ruderfer, Shaun M. Purcell, Taru Tukiainen, Eric V. MinikelPeter D. Stenson, David N. Cooper, Katharine H. Huang, Timothy J. Sullivan, Jared Nedzel, Carlos D. Bustamante, Jin Billy Li, Mark J. Daly, Roderic Guigo, Peter Donnelly, Kristin Ardlie, Michael Sammeth, Emmanouil T. Dermitzakis, Mark I. McCarthy, Stephen B. Montgomery, Tuuli Lappalainen, Daniel G. MacArthur, GTEx Consortium, GEUVADIS Consortium

Institute for Molecular Medicine Finland

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Journal	Science
Volume	348
Issue number	6235
Pages (from-to)	666-669
Number of pages	4
ISSN	0036-8075
DOIs	https://doi.org/10.1126/science.1261877
Publication status	Published - 8 May 2015
MoE publication type	A1 Journal article-refereed

Fields of Science

RNA-SEQ DATA
HUMAN GENOMES
EXPRESSION
DISEASE
DOSAGE
3111 Biomedicine

Access to Document

10.1126/science.1261877

Cite this

Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., Ferreira, P. G., Smith, K. S., Zhang, R., Zhao, F., Banks, E., Poplin, R., Ruderfer, D. M., Purcell, S. M., Tukiainen, T., ... GEUVADIS Consortium (2015). Effect of predicted protein-truncating genetic variants on the human transcriptome. Science, 348(6235), 666-669. https://doi.org/10.1126/science.1261877

@article{d8657cf540224bae957754417235a783,

title = "Effect of predicted protein-truncating genetic variants on the human transcriptome",

keywords = "RNA-SEQ DATA, HUMAN GENOMES, EXPRESSION, DISEASE, DOSAGE, 3111 Biomedicine",

author = "Rivas, {Manuel A.} and Matti Pirinen and Conrad, {Donald F.} and Monkol Lek and Tsang, {Emily K.} and Karczewski, {Konrad J.} and Maller, {Julian B.} and Kukurba, {Kimberly R.} and DeLuca, {David S.} and Menachem Fromer and Ferreira, {Pedro G.} and Smith, {Kevin S.} and Rui Zhang and Fengmei Zhao and Eric Banks and Ryan Poplin and Ruderfer, {Douglas M.} and Purcell, {Shaun M.} and Taru Tukiainen and Minikel, {Eric V.} and Stenson, {Peter D.} and Cooper, {David N.} and Huang, {Katharine H.} and Sullivan, {Timothy J.} and Jared Nedzel and Bustamante, {Carlos D.} and Li, {Jin Billy} and Daly, {Mark J.} and Roderic Guigo and Peter Donnelly and Kristin Ardlie and Michael Sammeth and Dermitzakis, {Emmanouil T.} and McCarthy, {Mark I.} and Montgomery, {Stephen B.} and Tuuli Lappalainen and MacArthur, {Daniel G.} and {GTEx Consortium} and {GEUVADIS Consortium}",

year = "2015",

month = may,

day = "8",

doi = "10.1126/science.1261877",

language = "English",

volume = "348",

pages = "666--669",

journal = "Science",

issn = "0036-8075",

publisher = "American association for the advancement of science",

number = "6235",

}

Rivas, MA, Pirinen, M, Conrad, DF, Lek, M, Tsang, EK, Karczewski, KJ, Maller, JB, Kukurba, KR, DeLuca, DS, Fromer, M, Ferreira, PG, Smith, KS, Zhang, R, Zhao, F, Banks, E, Poplin, R, Ruderfer, DM, Purcell, SM, Tukiainen, T, Minikel, EV, Stenson, PD, Cooper, DN, Huang, KH, Sullivan, TJ, Nedzel, J, Bustamante, CD, Li, JB, Daly, MJ, Guigo, R, Donnelly, P, Ardlie, K, Sammeth, M, Dermitzakis, ET, McCarthy, MI, Montgomery, SB, Lappalainen, T, MacArthur, DG, GTEx Consortium & GEUVADIS Consortium 2015, 'Effect of predicted protein-truncating genetic variants on the human transcriptome', Science, vol. 348, no. 6235, pp. 666-669. https://doi.org/10.1126/science.1261877

TY - JOUR

T1 - Effect of predicted protein-truncating genetic variants on the human transcriptome

AU - Rivas, Manuel A.

AU - Pirinen, Matti

AU - Conrad, Donald F.

AU - Lek, Monkol

AU - Tsang, Emily K.

AU - Karczewski, Konrad J.

AU - Maller, Julian B.

AU - Kukurba, Kimberly R.

AU - DeLuca, David S.

AU - Fromer, Menachem

AU - Ferreira, Pedro G.

AU - Smith, Kevin S.

AU - Zhang, Rui

AU - Zhao, Fengmei

AU - Banks, Eric

AU - Poplin, Ryan

AU - Ruderfer, Douglas M.

AU - Purcell, Shaun M.

AU - Tukiainen, Taru

AU - Minikel, Eric V.

AU - Stenson, Peter D.

AU - Cooper, David N.

AU - Huang, Katharine H.

AU - Sullivan, Timothy J.

AU - Nedzel, Jared

AU - Bustamante, Carlos D.

AU - Li, Jin Billy

AU - Daly, Mark J.

AU - Guigo, Roderic

AU - Donnelly, Peter

AU - Ardlie, Kristin

AU - Sammeth, Michael

AU - Dermitzakis, Emmanouil T.

AU - McCarthy, Mark I.

AU - Montgomery, Stephen B.

AU - Lappalainen, Tuuli

AU - MacArthur, Daniel G.

AU - GTEx Consortium

AU - GEUVADIS Consortium

PY - 2015/5/8

Y1 - 2015/5/8

KW - RNA-SEQ DATA

KW - HUMAN GENOMES

KW - EXPRESSION

KW - DISEASE

KW - DOSAGE

KW - 3111 Biomedicine

U2 - 10.1126/science.1261877

DO - 10.1126/science.1261877

M3 - Article

SN - 0036-8075

VL - 348

SP - 666

EP - 669

JO - Science

JF - Science

IS - 6235

ER -