Targeted phasing of 2–200 kilobase DNA fragments with a short-read sequencer and a single-tube linked-read library method

Abstract In the human genome, heterozygous sites refer to genomic positions with a different allele or nucleotide variant on the maternal and paternal chromosomes. Resolving these allelic differences by chromosomal copy, also known as phasing, is achievable on a short-read sequencer when using a lib...

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Bibliographic Details
Main Authors: Veronika Mikhaylova, Madison Rzepka, Tetsuya Kawamura, Yu Xia, Peter L. Chang, Shiguo Zhou, Amber Paasch, Long Pham, Naisarg Modi, Likun Yao, Adrian Perez-Agustin, Sara Pagans, T. Christian Boles, Ming Lei, Yong Wang, Ivan Garcia-Bassets, Zhoutao Chen
Format: Article
Language:English
Published: Nature Portfolio 2024-04-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-024-58733-0