Comparative evaluation of SNVs, indels, and structural variations detected with short- and long-read sequencing data

Abstract Short- and long-read sequencing technologies are routinely used to detect DNA variants, including SNVs, indels, and structural variations (SVs). However, the differences in the quality and quantity of variants detected between short- and long-read data are not fully understood. In this stud...

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Bibliographic Details
Main Authors: Shunichi Kosugi, Chikashi Terao
Format: Article
Language:English
Published: Nature Publishing Group 2024-04-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-024-00276-x