Loading...
A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data
BACKGROUND: Exome sequencing (ES) is a first-tier diagnostic test for many suspected Mendelian disorders. While it is routine to detect small sequence variants, it is not a standard practice in clinical settings to detect germline copy-number variants (CNVs) from ES data due to several reasons relat...
Na minha lista:
| Udgivet i: | Genome Med |
|---|---|
| Main Authors: | , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BioMed Central
2020
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6993336/ https://ncbi.nlm.nih.gov/pubmed/32000839 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-020-0712-0 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|