Literature DB >> 31201313

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

Ying-Chih Wang1, Nathan D Olson2, Gintaras Deikus1, Hardik Shah1, Aaron M Wenger3, Jonathan Trow4, Chunlin Xiao4, Stephen Sherry4, Marc L Salit5, Justin M Zook6, Melissa Smith1,7, Robert Sebra1,7.   

Abstract

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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Year:  2019        PMID: 31201313      PMCID: PMC6572837          DOI: 10.1038/s41597-019-0098-2

Source DB:  PubMed          Journal:  Sci Data        ISSN: 2052-4463            Impact factor:   6.444


  3 in total

Review 1.  Structural variation in the sequencing era.

Authors:  Steve S Ho; Alexander E Urban; Ryan E Mills
Journal:  Nat Rev Genet       Date:  2019-11-15       Impact factor: 53.242

2.  Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project.

Authors:  Emma Wilcox; Steven M Harrison; Edward Lockhart; Karl Voelkerding; Ira M Lubin; Heidi L Rehm; Lisa V Kalman; Birgit Funke
Journal:  J Mol Diagn       Date:  2021-08-09       Impact factor: 5.568

3.  Genome-wide detection of short tandem repeat expansions by long-read sequencing.

Authors:  Qian Liu; Yao Tong; Kai Wang
Journal:  BMC Bioinformatics       Date:  2020-12-28       Impact factor: 3.169

  3 in total

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