RT Journal Article
SR Electronic
T1 Extensive sequencing of seven human genomes to characterize benchmark reference materials
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 026468
DO 10.1101/026468
A1 Justin M. Zook
A1 David Catoe
A1 Jennifer McDaniel
A1 Lindsay Vang
A1 Noah Spies
A1 Arend Sidow
A1 Ziming Weng
A1 Yuling Liu
A1 Chris Mason
A1 Noah Alexander
A1 Elizabeth Henaff
A1 Feng Chen
A1 Erich Jaeger
A1 Ali Moshrefi
A1 Khoa Pham
A1 William Stedman
A1 Tiffany Liang
A1 Michael Saghbini
A1 Zeljko Dzakula
A1 Alex Hastie
A1 Han Cao
A1 Gintaras Deikus
A1 Eric Schadt
A1 Robert Sebra
A1 Ali Bashir
A1 Rebecca M. Truty
A1 Christopher C. Chang
A1 Natali Gulbahce
A1 Keyan Zhao
A1 Srinka Ghosh
A1 Fiona Hyland
A1 Yutao Fu
A1 Mark Chaisson
A1 Chunlin Xiao
A1 Jonathan Trow
A1 Stephen T. Sherry
A1 Alexander W. Zaranek
A1 Madeleine Ball
A1 Jason Bobe
A1 Preston Estep
A1 George M. Church
A1 Patrick Marks
A1 Sofia Kyriazopoulou-Panagiotopoulou
A1 Grace X.Y. Zheng
A1 Michael Schnall-Levin
A1 Heather S. Ordonez
A1 Patrice A. Mudivarti
A1 Kristina Giorda
A1 Marc Salit
A1 Genome in a Bottle Consortium
YR 2015
UL http://biorxiv.org/content/early/2015/09/15/026468.abstract
AB The Genome in a Bottle Consortium hosted by the National Institute of Standards and Technology, (NIST), is creating reference materials and data for human genome sequencing, as well as methods for genome comparison and benchmarking. Here, we describe a large, diverse set of sequencing data for seven human genomes; five are current or candidate NIST Reference Materials. The pilot genome, NA12878, has been released as NIST RM 8398. We also describe data from two Personal Genome Project trios, one of Ashkenazim Jewish ancestry and one of Chinese ancestry. The data described come from 11 technologies: BioNano Genomics, Complete Genomics paired-end and LFR, Ion Proton exome, Oxford Nanopore, Pacific Biosciences, SOLiD, 10X Genomics GemCode™ WGS, and Illumina paired-end, mate-pair, and synthetic long reads. Cell lines, DNA, and data from these individuals are publicly available and highly characterized. Therefore, we expect these data to be useful for revealing novel information about the human genome and improving sequencing technologies, SNP, indel, and structural variant calling, and de novo assembly.