Limitations of exome sequencing in detecting rare and undiagnosed diseases

While exome sequencing (ES) is commonly the final diagnostic step in clinical genetics, it may miss diagnoses. To clarify the limitations of ES, we investigated the diagnostic yield of genetic tests beyond ES in our Undiagnosed Diseases Network (UDN) participants. We reviewed the yield of additional...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Burdick, Kendall J., Cogan, Joy D., Rives, Lynette C., Robertson, Amy K., Koziura, Mary E., Brokamp, Elly, Duncan, Laura, Hannig, Vickie, Pfotenhauer, Jean, Vanzo, Rena, Paul, Michael S., Bican, Anna, Morgan, Thomas, Duis, Jessica, Newman, John H., Hamid, Rizwan, Phillips, John A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8057342/
https://ncbi.nlm.nih.gov/pubmed/32190976
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61558
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados