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Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts

Estimates from large scale genome sequencing studies indicate that each human carries up to 20 genetic variants that are predicted to results in loss of function (LOF) of protein-coding genes. While some are known disease-causing variants or common, tolerated, LOFs in non-essential genes, the majori...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Sleiman, Patrick, Bradfield, Jonathan, Mentch, Frank, Almoguera, Berta, Connolly, John, Hakonarson, Hakon
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Frontiers Media S.A. 2014
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4010747/
https://ncbi.nlm.nih.gov/pubmed/24808909
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2014.00105
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