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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3759716/
https://www.ncbi.nlm.nih.gov/pubmed/23685542
http://dx.doi.org/10.1101/gr.156075.113

Ejemplares similares

Ejemplares similares