Llwytho...

Quantitative Assessment of Parental Somatic Mosaicism for CNV Deletions

As genome sequencing methodologies become more sensitive to the detection of low frequency rare variant events, the link between post-zygotic mutagenesis and somatic mosaicism in the etiology of several human genetic conditions other than cancers has become more clear. Since current clinical genomic...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Curr Protoc Hum Genet
Prif Awduron: Liu, Qian, Grochowski, Christopher M., Bi, Weimin, Lupski, James R., Stankiewicz, Paweł
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2020
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7138410/
https://ncbi.nlm.nih.gov/pubmed/32176465
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/cphg.99
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!