Extensive sequencing of seven human genomes to characterize benchmark reference materials.
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 come from 12 technologies: BioNano Genomics, Complete Genomics paired-end and LFR, Ion Proton exome, Oxford Nanopore, Pacific Biosciences, SOLiD, 10X Genomics GemCode WGS, and Illumina exome and WGS paired-end, mate-pair, and synthetic long reads. Cell lines, DNA, and data from these individuals are publicly available. 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.
National Institute of Standards and Technology, Gaithersburg, Maryland 20899, USA.
Justin M
JM
Zook
National Institute of Standards and Technology, Gaithersburg, Maryland 20899, USA.
David
D
Catoe
National Institute of Standards and Technology, Gaithersburg, Maryland 20899, USA.
Jennifer
J
McDaniel
National Institute of Standards and Technology, Gaithersburg, Maryland 20899, USA.
Lindsay
L
Vang
National Institute of Standards and Technology, Gaithersburg, Maryland 20899, USA.|Stanford University, Stanford, California 94305, USA.
Noah
N
Spies
Stanford University, Stanford, California 94305, USA.
Arend
A
Sidow
Stanford University, Stanford, California 94305, USA.
Ziming
Z
Weng
Stanford University, Stanford, California 94305, USA.
Yuling
Y
Liu
Department of Physiology and Biophysics, the Feil Family Brain and Mind Research Institute, and HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Medical College, Cornell University, New York, New York 10065, USA.
Christopher E
CE
Mason
Department of Physiology and Biophysics, the Feil Family Brain and Mind Research Institute, and HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Medical College, Cornell University, New York, New York 10065, USA.
Noah
N
Alexander
Department of Physiology and Biophysics, the Feil Family Brain and Mind Research Institute, and HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Medical College, Cornell University, New York, New York 10065, USA.
Elizabeth
E
Henaff
Department of Physiology and Biophysics, the Feil Family Brain and Mind Research Institute, and HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Medical College, Cornell University, New York, New York 10065, USA.
Alexa B R
AB
McIntyre
Department of Physiology and Biophysics, the Feil Family Brain and Mind Research Institute, and HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Medical College, Cornell University, New York, New York 10065, USA.
Dhruva
D
Chandramohan
Illumina Mission Bay, San Francisco, California 94158, USA.
Feng
F
Chen
Illumina Mission Bay, San Francisco, California 94158, USA.
Erich
E
Jaeger
Illumina Mission Bay, San Francisco, California 94158, USA.
Ali
A
Moshrefi
BioNano Genomics, San Diego, California 92121, USA.
Khoa
K
Pham
BioNano Genomics, San Diego, California 92121, USA.
William
W
Stedman
BioNano Genomics, San Diego, California 92121, USA.
Tiffany
T
Liang
BioNano Genomics, San Diego, California 92121, USA.
Michael
M
Saghbini
BioNano Genomics, San Diego, California 92121, USA.
Zeljko
Z
Dzakula
BioNano Genomics, San Diego, California 92121, USA.
Alex
A
Hastie
BioNano Genomics, San Diego, California 92121, USA.
Han
H
Cao
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
Gintaras
G
Deikus
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
Eric
E
Schadt
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
Robert
R
Sebra
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
Ali
A
Bashir
Complete Genomics Inc., Mountain View, California 94043, USA.
Rebecca M
RM
Truty
Complete Genomics Inc., Mountain View, California 94043, USA.
Christopher C
CC
Chang
Complete Genomics Inc., Mountain View, California 94043, USA.
Natali
N
Gulbahce
Thermo Fisher Scientific, South San Francisco, California 94080, USA.
Keyan
K
Zhao
Thermo Fisher Scientific, South San Francisco, California 94080, USA.
Srinka
S
Ghosh
Thermo Fisher Scientific, South San Francisco, California 94080, USA.
Fiona
F
Hyland
Thermo Fisher Scientific, South San Francisco, California 94080, USA.
Yutao
Y
Fu
Genome Sciences, University of Washington, Seattle, Washington 98105, USA.
Mark
M
Chaisson
National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 45 Center Drive, Bethesda, Maryland 20892, USA.
Chunlin
C
Xiao
National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 45 Center Drive, Bethesda, Maryland 20892, USA.
Jonathan
J
Trow
National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 45 Center Drive, Bethesda, Maryland 20892, USA.
Stephen T
ST
Sherry
PersonalGenomes.org, Boston, Massachusetts 02115, USA.
Alexander W
AW
Zaranek
PersonalGenomes.org, Boston, Massachusetts 02115, USA.
Madeleine
M
Ball
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.|PersonalGenomes.org, Boston, Massachusetts 02115, USA.
Jason
J
Bobe
PersonalGenomes.org, Boston, Massachusetts 02115, USA.|Harvard Medical School, Boston, Massachusetts 02115, USA.
Preston
P
Estep
PersonalGenomes.org, Boston, Massachusetts 02115, USA.|Harvard Medical School, Boston, Massachusetts 02115, USA.
George M
GM
Church
10X Genomics, Pleasanton, California 94566, USA.
Patrick
P
Marks
10X Genomics, Pleasanton, California 94566, USA.
Sofia
S
Kyriazopoulou-Panagiotopoulou
10X Genomics, Pleasanton, California 94566, USA.
Grace X Y
GX
Zheng
10X Genomics, Pleasanton, California 94566, USA.
Michael
M
Schnall-Levin
10X Genomics, Pleasanton, California 94566, USA.
Heather S
HS
Ordonez
10X Genomics, Pleasanton, California 94566, USA.
Patrice A
PA
Mudivarti
10X Genomics, Pleasanton, California 94566, USA.
Kristina
K
Giorda
Department of Medical Genetics, Oslo University Hospital, Kirkeveien 166, Bygg 25, Oslo 0450, Norway.
Ying
Y
Sheng
Department of Medical Genetics, Oslo University Hospital, Kirkeveien 166, Bygg 25, Oslo 0450, Norway.
Karoline Bjarnesdatter
KB
Rypdal
National Institute of Standards and Technology, Gaithersburg, Maryland 20899, USA.|Stanford University, Stanford, California 94305, USA.
Marc
M
Salit
D019985:Benchmarking; D059472:Exome; D015894:Genome, Human; D023281:Genomics; D006801:Humans; D054643:INDEL Mutation