QR code

Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data

Abstract Background Copy number variants (CNVs) play a significant role in human heredity and disease. However, sensitive and specific characterization of germline CNVs from NGS data has remained challenging, particularly for hybridization-capture data in which read counts are the primary source of...

Volledige beschrijving

Bewaard in:
Hoofdauteurs: Brendan O’Fallon, Jacob Durtschi, Ana Kellogg, Tracey Lewis, Devin Close, Hunter Best
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMC 2022-07-01
Reeks:BMC Bioinformatics
Onderwerpen:
Copy number variants (CNV)
Next generation sequencing
Hidden Markov model
Whole exome sequencing
Online toegang:https://doi.org/10.1186/s12859-022-04820-w
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items