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The characterization of twenty sequenced human genomes.

Publication ,  Journal Article
Pelak, K; Shianna, KV; Ge, D; Maia, JM; Zhu, M; Smith, JP; Cirulli, ET; Fellay, J; Dickson, SP; Gumbs, CE; Heinzen, EL; Need, AC; Ruzzo, EK ...
Published in: PLoS Genet
September 9, 2010

We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest. We sequenced at high coverage ten "case" genomes from individuals with severe hemophilia A and ten "control" genomes. We summarize the number of genetic variants emerging from a study of this magnitude, and provide a proof of concept for the identification of rare and highly-penetrant functional variants by confirming that the cause of hemophilia A is easily recognizable in this data set. We also show that the number of novel single nucleotide variants (SNVs) discovered per genome seems to stabilize at about 144,000 new variants per genome, after the first 15 individuals have been sequenced. Finally, we find that, on average, each genome carries 165 homozygous protein-truncating or stop loss variants in genes representing a diverse set of pathways.

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Published In

PLoS Genet

DOI

EISSN

1553-7404

Publication Date

September 9, 2010

Volume

6

Issue

9

Start / End Page

e1001111

Location

United States

Related Subject Headings

  • Sequence Analysis, DNA
  • Polymorphism, Single Nucleotide
  • Polymorphism, Genetic
  • Open Reading Frames
  • Oligonucleotide Array Sequence Analysis
  • INDEL Mutation
  • Humans
  • Hemophilia A
  • Genotype
  • Genome, Human
 

Citation

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Pelak, K., Shianna, K. V., Ge, D., Maia, J. M., Zhu, M., Smith, J. P., … Goldstein, D. B. (2010). The characterization of twenty sequenced human genomes. PLoS Genet, 6(9), e1001111. https://doi.org/10.1371/journal.pgen.1001111
Pelak, Kimberly, Kevin V. Shianna, Dongliang Ge, Jessica M. Maia, Mingfu Zhu, Jason P. Smith, Elizabeth T. Cirulli, et al. “The characterization of twenty sequenced human genomes.PLoS Genet 6, no. 9 (September 9, 2010): e1001111. https://doi.org/10.1371/journal.pgen.1001111.
Pelak K, Shianna KV, Ge D, Maia JM, Zhu M, Smith JP, et al. The characterization of twenty sequenced human genomes. PLoS Genet. 2010 Sep 9;6(9):e1001111.
Pelak, Kimberly, et al. “The characterization of twenty sequenced human genomes.PLoS Genet, vol. 6, no. 9, Sept. 2010, p. e1001111. Pubmed, doi:10.1371/journal.pgen.1001111.
Pelak K, Shianna KV, Ge D, Maia JM, Zhu M, Smith JP, Cirulli ET, Fellay J, Dickson SP, Gumbs CE, Heinzen EL, Need AC, Ruzzo EK, Singh A, Campbell CR, Hong LK, Lornsen KA, McKenzie AM, Sobreira NLM, Hoover-Fong JE, Milner JD, Ottman R, Haynes BF, Goedert JJ, Goldstein DB. The characterization of twenty sequenced human genomes. PLoS Genet. 2010 Sep 9;6(9):e1001111.

Published In

PLoS Genet

DOI

EISSN

1553-7404

Publication Date

September 9, 2010

Volume

6

Issue

9

Start / End Page

e1001111

Location

United States

Related Subject Headings

  • Sequence Analysis, DNA
  • Polymorphism, Single Nucleotide
  • Polymorphism, Genetic
  • Open Reading Frames
  • Oligonucleotide Array Sequence Analysis
  • INDEL Mutation
  • Humans
  • Hemophilia A
  • Genotype
  • Genome, Human