Paragraph: a graph-based structural variant genotyper for short-read sequence data

Accurate detection and genotyping of structural variations (SVs) from short-read data is a long-standing area of development in genomics research and clinical sequencing pipelines. We introduce Paragraph, an accurate genotyper that models SVs using sequence graphs and SV annotations. We demonstrate...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
Main Authors: Sai Chen, Peter Krusche, Egor Dolzhenko, Rachel M. Sherman, Roman Petrovski, Felix Schlesinger, Melanie Kirsche, David Bentley, Michael C. Schatz, Fritz J. Sedlazeck, Michael A. Eberle
Format: Artigo
Jezik:angleščina
Izdano: 2019
Online dostop:https://doi.org/10.1186/s13059-019-1909-7
https://genomebiology.biomedcentral.com/track/pdf/10.1186/s13059-019-1909-7
Oznake: Označite
Brez oznak, prvi označite!