RDscan: A New Method for Improving Germline and Somatic Variant Calling Based on Read Depth Distribution

Autor: Sunho Lee, Seokchol Hong, Jonathan Woo, Jae-hak Lee, Kyunghee Kim, Lucia Kim, Kunsoo Park, Jongsun Jung
Rok vydání: 2022
Předmět:
Zdroj: Journal of Computational Biology. 29:987-1000
ISSN: 1557-8666
Popis: Several tools have been developed for calling variants from next-generation sequencing (NGS) data. Although they are generally accurate and reliable, most of them have room for improvement, especially regarding calling variants in datasets with low read depth. In addition, the somatic variants predicted by several somatic variant callers tend to have very low concordance rates. In this study, we developed a new method (RDscan) for improving germline and somatic variant calling in NGS data. RDscan removes misaligned reads, repositions reads, and calculates
Databáze: OpenAIRE