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...

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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cold Spring Harbor Laboratory Press 2013
Soggetti:
Research
Accesso online: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
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