Imperial College London
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Dr. Anna C. Need

Faculty of Medicine, Department of Brain Sciences

Honorary Lecturer
 
 
 
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Contact

 

+44 (0)20 3313 8436a.need Website

 
 
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Location

 

7N2aCommonwealth BuildingHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Pelak:2010:10.1371/journal.pgen.1001111,
author = {Pelak, K and Shianna, KV and Ge, D and Maia, JM and Zhu, M and Smith, JP and Cirulli, ET and Fellay, J and Dickson, SP and Gumbs, CE and Heinzen, EL and Need, AC and Ruzzo, EK and Singh, A and Campbell, CR and Hong, LK and Lornsen, KA and McKenzie, AM and Sobreira, NL and Hoover-Fong, JE and Milner, JD and Ottman, R and Haynes, BF and Goedert, JJ and Goldstein, DB},
doi = {10.1371/journal.pgen.1001111},
journal = {PLOS Genetics},
title = {The Characterization of Twenty Sequenced Human Genomes},
url = {http://dx.doi.org/10.1371/journal.pgen.1001111},
volume = {6},
year = {2010}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - 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.
AU  - Pelak,K
AU  - Shianna,KV
AU  - Ge,D
AU  - Maia,JM
AU  - Zhu,M
AU  - Smith,JP
AU  - Cirulli,ET
AU  - Fellay,J
AU  - Dickson,SP
AU  - Gumbs,CE
AU  - Heinzen,EL
AU  - Need,AC
AU  - Ruzzo,EK
AU  - Singh,A
AU  - Campbell,CR
AU  - Hong,LK
AU  - Lornsen,KA
AU  - McKenzie,AM
AU  - Sobreira,NL
AU  - Hoover-Fong,JE
AU  - Milner,JD
AU  - Ottman,R
AU  - Haynes,BF
AU  - Goedert,JJ
AU  - Goldstein,DB
DO  - 10.1371/journal.pgen.1001111
PY  - 2010///
SN  - 1553-7390
TI  - The Characterization of Twenty Sequenced Human Genomes
T2  - PLOS Genetics
UR  - http://dx.doi.org/10.1371/journal.pgen.1001111
UR  - http://hdl.handle.net/10044/1/41677
VL  - 6
ER  -
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