36 被引用数 (Scopus)

抄録

The complete human genome sequence is used as a reference for next-generation sequencing analyses. However, some ethnic ancestries are under-represented in the reference genome (e.g., GRCh37) due to its bias toward European and African ancestries. Here, we perform de novo assembly of three Japanese male genomes using > 100× Pacific Biosciences long reads and Bionano Genomics optical maps per sample. We integrate the genomes using the major allele for consensus and anchor the scaffolds using genetic and radiation hybrid maps to reconstruct each chromosome. The resulting genome sequence, JG1, is contiguous, accurate, and carries the Japanese major allele at most loci. We adopt JG1 as the reference for confirmatory exome re-analyses of seven rare-disease Japanese families and find that re-analysis using JG1 reduces total candidate variant calls versus GRCh37 while retaining disease-causing variants. These results suggest that integrating multiple genomes from a single population can aid genome analyses of that population.

本文言語英語
論文番号226
ジャーナルNature Communications
12
1
DOI
出版ステータス出版済み - 2021 12月 1

フィンガープリント

「Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

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