Código QR (código de barras bidimensional)

A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

Abstract 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 reaso...

Fuld beskrivelse

Na minha lista:
Principais autores: Ramakrishnan Rajagopalan, Jill R. Murrell, Minjie Luo, Laura K. Conlin
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2020-01-01
Serier:Genome Medicine
Fag:
Clinical exome sequencing
Copy-number variation
Online adgang:https://doi.org/10.1186/s13073-020-0712-0
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker