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...
Main Authors: | , , , , , , , , , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Nature Portfolio
2024-04-01
|
Series: | Scientific Reports |
Online Access: | https://doi.org/10.1038/s41598-024-58733-0 |