Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

Over 1200 recessive disease genes have been described in humans. The prevalence, allelic architecture, and per-genome load of pathogenic alleles in these genes remain to be fully elucidated, as does the contribution of DNA copy-number variants (CNVs) to carrier status and recessive disease. We mined...

Full description

Saved in:
Bibliographic Details
Main Authors: Boone, Philip M., Campbell, Ian M., Baggett, Brett C., Soens, Zachry T., Rao, Mitchell M., Hixson, Patricia M., Patel, Ankita, Bi, Weimin, Cheung, Sau Wai, Lalani, Seema R., Beaudet, Arthur L., Stankiewicz, Pawel, Shaw, Chad A., Lupski, James R.
Format: Artigo
Language:Inglês
Published: Cold Spring Harbor Laboratory Press 2013
Subjects:
Research
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3759716/
https://ncbi.nlm.nih.gov/pubmed/23685542
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.156075.113
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items