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...

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Detalles Bibliográficos
Autores principales: Sleiman, Patrick, Bradfield, Jonathan, Mentch, Frank, Almoguera, Berta, Connolly, John, Hakonarson, Hakon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2014
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4010747/
https://www.ncbi.nlm.nih.gov/pubmed/24808909
http://dx.doi.org/10.3389/fgene.2014.00105

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4010747/
https://www.ncbi.nlm.nih.gov/pubmed/24808909
http://dx.doi.org/10.3389/fgene.2014.00105

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