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Next-generation sequencing analysis with a population-specific human reference genome.

Genes & genetic systems - 21 Dec 2024

Suzuki Tomohisa, Ninomiya Kota, Funayama Takamitsu, Okamura Yasunobu, Tadaka Shu, Kinoshita Kengo, Yamamoto Masayuki, Kure Shigeo, Kikuchi Atsuo, Tamiya Gen, Takayama Jun

Abstract excerpt

Next-generation sequencing (NGS) has become widely available and is routinely used in basic research and clinical practice. The reference genome sequence is an essential resource for NGS analysis, and several population-specific reference genomes have recently been constructed to provide a choice to deal with the vast genetic diversity of human samples. However, resources supporting population-specific references...

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PMID: 39462538
DOI: 10.1266/ggs.24-00112

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