Quantifying concordant genetic effects of de novo mutations on multiple disorders

Exome sequencing on tens of thousands of parent-proband trios has identified numerous deleterious de novo mutations (DNMs) and implicated risk genes for many disorders. Recent studies have suggested shared genes and pathways are enriched for DNMs across multiple disorders. However, existing analytic...

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Detalles Bibliográficos
Autores principales: Guo, Hanmin, Hou, Lin, Shi, Yu, Jin, Sheng Chih, Zeng, Xue, Li, Boyang, Lifton, Richard P, Brueckner, Martina, Zhao, Hongyu, Lu, Qiongshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2022
Materias:
Genetics and Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9217133/
https://www.ncbi.nlm.nih.gov/pubmed/35666111
http://dx.doi.org/10.7554/eLife.75551

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9217133/
https://www.ncbi.nlm.nih.gov/pubmed/35666111
http://dx.doi.org/10.7554/eLife.75551

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