# A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/a-systematic-survey-of-loss-of-function-variants-in-human-protein-coding-genes/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Daniel G. MacArthur,Suganthi Balasubramanian,Adam Frankish,Ni Huang,James Morris,Klaudia Walter,Luke Jostins,Lukas Habegger,Joseph K. Pickrell,Stephen B. Montgomery,Cornelis A. Albers,Zhengdong D. Zhang,Donald F. Conrad,Gerton Lunter,Hancheng Zheng,Qasim Ayub,Mark A. DePristo,Eric Banks,Min Hu,Robert E. Handsaker,Jeffrey Rosenfeld,Menachem Fromer,Mike Jin,Xinmeng Jasmine Mu,Ekta Khurana,Kai Ye,Mike Kay,Gary Saunders,Marie‐Marthe Suner,Toby Hunt,If Barnes,Clara Amid,Denise Carvalho‐Silva,Alexandra Bignell,Catherine Snow,Bryndís Yngvadóttir,Suzannah Bumpstead,D.N. Cooper,Yali Xue,Irene Gallego Romero,Jun Wang,Yingrui Li,Richard A. Gibbs,Steven A. McCarroll,Emmanouil T. Dermitzakis,Jonathan K. Pritchard,Jeffrey C. Barrett,Jennifer Harrow,Matthew E. Hurles,Mark Gerstein,Chris Tyler‐Smith |
| Citations | 1,343 |
| DOI | 10.1126/science.1215040 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | green |
| OA URL | https://archive-ouverte.unige.ch/unige:32178 |
| OpenAlex ID | https://openalex.org/W2143602768 |
| PMID | 22344438 |
| Type | article |
| Year | 2012 |

## Paper authors

- [Xinmeng Jasmine Mu](https://scholariq.org/researchers/xinmeng-jasmine-mu/)

## Paper journal

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

## Paper primary topic

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)

## Paper topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [CRISPR and Genetic Engineering](https://scholariq.org/topics/crispr-and-genetic-engineering/)
- [RNA and protein synthesis mechanisms](https://scholariq.org/topics/rna-and-protein-synthesis-mechanisms/)

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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.