High-coverage, long-read sequencing of Han Chinese trio reference samples

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作者
Ying-Chih Wang
Nathan D. Olson
Gintaras Deikus
Hardik Shah
Aaron M. Wenger
Jonathan Trow
Chunlin Xiao
Stephen Sherry
Marc L. Salit
Justin M. Zook
Melissa Smith
Robert Sebra
机构
[1] Icahn School of Medicine at Mount Sinai,Department of Genetics and Genomic Sciences
[2] Material Measurement Laboratory,National Center for Biotechnology Information
[3] National Institute of Standards and Technology,undefined
[4] Pacific Biosciences,undefined
[5] National Library of Medicine,undefined
[6] National Institutes of Health,undefined
[7] Joint Initiative for Metrology in Biology,undefined
[8] Icahn Institute of Data Science and Genomic Technology,undefined
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摘要
Single-molecule long-read sequencing datasets were generated for a son-father-mother trio of Han Chinese descent that is part of the Genome in a Bottle (GIAB) consortium portfolio. The dataset was generated using the Pacific Biosciences Sequel System. The son and each parent were sequenced to an average coverage of 60 and 30, respectively, with N50 subread lengths between 16 and 18 kb. Raw reads and reads aligned to both the GRCh37 and GRCh38 are available at the NCBI GIAB ftp site (ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/data/ChineseTrio/). The GRCh38 aligned read data are archived in NCBI SRA (SRX4739017, SRX4739121, and SRX4739122). This dataset is available for anyone to develop and evaluate long-read bioinformatics methods.
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