Extensive sequencing of seven human genomes to characterize benchmark reference materials

• DOI: 10.1101/026468
• Publication Date: 2015-09-16T05:02:06Z
• Authors: Justin M. Zook; David Catoe; Jennifer McDaniel; Lindsay Vang; Noah Spies; Arend Sidow; Ziming Weng; Yuling Liu; Chris Mason; Noah Alexander; Elizabeth Henaff; Feng Chen; Erich Jaeger; Ali Moshrefi; Khoa Pham; William Stedman; Tiffany Liang; Michael Saghbini; Zeljko Dzakula; Alex Hastie; Han Cao; Gintaras Deikus; Eric Schadt; Robert Sebra; Ali Bashir; Rebecca M. Truty; Christopher C. Chang; Natali Gulbahce; Keyan Zhao; Srinka Ghosh; Fiona Hyland; Yutao Fu; Mark Chaisson; Chunlin Xiao; Jonathan Trow; Stephen T. Sherry; Alexander W. Zaranek; Madeleine Ball; Jason Bobe; Preston Estep; George M. Church; Patrick Marks; Sofia Kyriazopoul...; Grace X.Y. Zheng; Michael Schnall-L...; Heather S. Ordonez; Patrice A. Mudivarti; Kristina Giorda; Ying Sheng; Karoline Bjarnesd...; Marc Salit
• Keywords: Benchmark (surveying)

Abstract The Genome in a Bottle Consortium, hosted by the National Institute of Standards and Technology (NIST) is creating reference materials data for human genome sequencing, as well methods comparison benchmarking. Here, we describe large, diverse set sequencing seven genomes; five are current or candidate NIST Reference Materials. pilot genome, NA12878, has been released RM 8398. We also from two Personal Project trios, one Ashkenazim Jewish ancestry Chinese ancestry. come 12 technologies: BioNano Genomics, Complete Genomics paired-end LFR, Ion Proton exome, Oxford Nanopore, Pacific Biosciences, SOLiD, 10X GemCode™ WGS, Illumina exome WGS paired-end, mate-pair, synthetic long reads. Cell lines, DNA, these individuals publicly available. Therefore, expect to be useful revealing novel information about improving technologies, SNP, indel, structural variant calling, de novo assembly.