Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians.

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Shen, Hui; Li, Jian; Zhang, Jigang; Xu, Chao; Jiang, Yan; Wu, Zikai; Zhao, Fuping; Liao, Li; Chen, Jun; Lin, Yong; Tian, Qing; Papasian, Christopher J.; Deng, Hong-Wen;

(2013)

Publisher: Public Library of Science (PLoS)

Journal: PLoS ONE,volume 8,issue 4 (issn: 1932-6203, eissn: 1932-6203)

Publisher copyright policies & self-archiving

Related identifiers: doi: 10.1371/journal.pone.0059494, pmc: PMC3618277
Subject: Computational Biology | Bio-Ontologies | Human Genetics | Population Genetics | Research Article | Biology | Genome Complexity | Medicine | Gene Ontologies | Genome Databases | Q | R | Genetics | Population Biology | Computer Science | Ontology and Logics | Science | Genome Analysis Tools | Genomics | Genome Sequencing | Genome-Wide Association Studies | Genetic Polymorphism | Sequence Assembly Tools

Whole genome sequencing studies are essential to obtain a comprehensive understanding of the vast pattern of human genomic variations. Here we report the results of a high-coverage whole genome sequencing study for 44 unrelated healthy Caucasian adults, each sequenced t... View more

References (41)
41 references, page 1 of 5
1
2
3
4
5
1 Feero WG, Guttmacher AE, Collins FS (2010) Genomic medicine – an updated primer. N Engl J Med 362: 2001–2011.20505179
2 Manolio TA, Brooks LD, Collins FS (2008) A HapMap harvest of insights into the genetics of common disease. J Clin Invest 118: 1590–1605.18451988
3 Freedman ML, Mont eiro AN, Gayther SA, Coetzee GA, Risch A, et al (2011) Principles for the post-GWAS functional characterization of cancer risk loci. Nat Genet 43: 513–518.21614091
4 Kingsley CB (2011) Identification of causal sequence variants of disease in the next generation sequencing era. Methods Mol Biol 700: 37–46.21204025
5 Eichler EE, Flint J, Gibson G, Kong A, Leal SM, et al (2010) Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet 11: 446–450.20479774
6 Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, et al (2009) Finding the missing heritability of complex diseases. Nature 461: 747–753.19812666
7 Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, et al (2008) Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456: 53–59.18987734
8 Drmanac R, Sparks AB, Callow MJ, Halpern AL, Burns NL, et al (2010) Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 327: 78–81.19892942
9 McKernan KJ, Peckham HE, Costa GL, McLaughlin SF, Fu Y, et al (2009) Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res 19: 1527–1541.19546169
10 Pushkarev D, Neff NF, Quake SR (2009) Single-molecule sequencing of an individual human genome. Nat Biotechnol 27: 847–850.19668243

Related Research Results (8)

Inferred by OpenAIRE

dataset Summary of identified SNPs and indels/block substitutions. (2013)	73%
dataset Summary information of population-based whole-genome sequencing studies. (2013)	73%
other Comprehensive Characterization of Human Genome Variation by High Coverage Whole-Genome Sequencing of Forty Four Caucasians (2013)	73%
dataset Top 10 GO terms significantly enriched or depleted for deleterious coding variants, and enriched for “knocked-out” genes. (2013)	73%
software trait-o-matic software on GitHub in support of 'Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians.'	72%
dataset Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene (2010)	66%
other The Diploid Genome Sequence of an Individual Human (2007)	62%
other The Characterization of Twenty Sequenced Human Genomes (2010)	59%

Related Organizations (7)

UNIVERSITY OF MISSOURI KANSAS CITY	90%
TULANE UNIVERSITY	90%
Tulane University ( Tulane University ) United States Website url: http://tulane.edu/	90%
Tulane University	90%
TULANE UNIVERSITY OF LOUISIANA	87%
University of Shanghai for Science and Technology ( USST ) China Website url: http://en.usst.edu.cn/index1.htm	90%
University of Missouri-Kansas City United States	90%

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