Sep 15, 2015

Extensive sequencing of seven human genomes to characterize benchmark reference materials

BioRxiv : the Preprint Server for Biology
Justin M ZookKaroline Bjarnesdatter Rypdal

Abstract

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 Asian 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 GemCodeTM 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.

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Mentioned in this Paper

Genome
Pilot Projects
Nucleic Acid Sequencing
Genomics
Sequencing
Centaurea cyanus
Genome Sequencing
Asians
Single Nucleotide Polymorphism
Ilex paraguayensis homeopathic preparation

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