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