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

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/effect-of-predicted-protein-truncating-genetic-variants-on-the-human/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Manuel A. Rivas,Matti Pirinen,Donald F. Conrad,Monkol Lek,Emily K. Tsang,Konrad J. Karczewski,Julian 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 Purcell,Taru Tukiainen,Eric Vallabh Minikel,Peter D. Stenson,D.N. Cooper,Katharine H. Huang,Timothy J. Sullivan,Jared L. Nedzel,Carlos D. Bustamante,Jin Billy Li,Mark J. Daly,Roderic Guigó,Peter Donnelly,Kristin Ardlie,Michael Sammeth,Emmanouil T. Dermitzakis,Mark I. McCarthy,Stephen B. Montgomery,Tuuli Lappalainen,Daniel G. MacArthur,Ayellet V. Segrè,Taylor Young,Ellen Gelfand,Casandra A. Trowbridge,Lucas D. Ward,Pouya Kheradpour,Benjamin Iriarte,Yan Meng,Cameron D. Palmer,Tõnu Esko,Wendy Winckler,Joel N. Hirschhorn,Manolis Kellis,Gad Getz,Andrey A. Shablin,Gen Li,Yi‐Hui Zhou,Andrew B. Nobel,Ivan Rusyn,Fred A. Wright,Alexis Battle,Sara Mostafavi,Marta Melé,Ferrán Reverter,Jakob M. Goldmann,Daphne Koller,Eric R. Gamazon,Hae Kyung Im,Anuar Konkashbaev,Dan L. Nicolae,Nancy J. Cox,Timothe Flutre,Xiaoquan Wen,Matthew Stephens,Jonathan K. Pritchard,Zhidong Tu,Bin Zhang,Tao Huang,Quan Long,Luan Lin,Jialiang Yang,Jun Zhu,Jun S. Liu,Amanda Brown,Bernadette Mestichelli,Denee Tidwell,Edmund Lo,Mike Salvatore,Saboor Shad,Jeffrey A. Thomas,John T. Lonsdale,Roswell Christopher Choi,Ellen Karasik,Kimberly Ramsey,Michael T. Moser,Barbara A. Foster,Bryan M. Gillard,John Syron,Johnelle Fleming,Harold I. Magazine,Rick Hasz,Gary Walters,Jason Bridge |
| Citations | 350 |
| DOI | 10.1126/science.1261877 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | green |
| OA URL | https://www.ncbi.nlm.nih.gov/pmc/articles/4537935 |
| OpenAlex ID | https://openalex.org/W1843990841 |
| PMID | 25954003 |
| Type | article |
| Year | 2015 |

## Paper journal

- [Science](https://scholariq.org/journals/science/)

## Paper primary topic

- [Genomics and Chromatin Dynamics](https://scholariq.org/topics/genomics-and-chromatin-dynamics/)

## Paper topics

- [Genomics and Chromatin Dynamics](https://scholariq.org/topics/genomics-and-chromatin-dynamics/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [RNA modifications and cancer](https://scholariq.org/topics/rna-modifications-and-cancer/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.