The characterization of twenty sequenced human genomes.
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...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2010-09-01
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| Series: | PLoS Genetics |
| Online Access: | http://europepmc.org/articles/PMC2936541?pdf=render |
| _version_ | 1819072572025733120 |
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| author | Kimberly Pelak Kevin V Shianna Dongliang Ge Jessica M Maia Mingfu Zhu Jason P Smith Elizabeth T Cirulli Jacques Fellay Samuel P Dickson Curtis E Gumbs Erin L Heinzen Anna C Need Elizabeth K Ruzzo Abanish Singh C Ryan Campbell Linda K Hong Katharina A Lornsen Alexander M McKenzie Nara L M Sobreira Julie E Hoover-Fong Joshua D Milner Ruth Ottman Barton F Haynes James J Goedert David B Goldstein |
| author_facet | Kimberly Pelak Kevin V Shianna Dongliang Ge Jessica M Maia Mingfu Zhu Jason P Smith Elizabeth T Cirulli Jacques Fellay Samuel P Dickson Curtis E Gumbs Erin L Heinzen Anna C Need Elizabeth K Ruzzo Abanish Singh C Ryan Campbell Linda K Hong Katharina A Lornsen Alexander M McKenzie Nara L M Sobreira Julie E Hoover-Fong Joshua D Milner Ruth Ottman Barton F Haynes James J Goedert David B Goldstein |
| author_sort | Kimberly Pelak |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-21T17:39:51Z |
| format | Article |
| id | doaj.art-11d35ff706624861ad364c3bc6c9cd73 |
| institution | Directory Open Access Journal |
| issn | 1553-7390 1553-7404 |
| language | English |
| last_indexed | 2024-12-21T17:39:51Z |
| publishDate | 2010-09-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS Genetics |
| spelling | doaj.art-11d35ff706624861ad364c3bc6c9cd732022-12-21T18:55:39ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042010-09-0169e100111110.1371/journal.pgen.1001111The characterization of twenty sequenced human genomes.Kimberly PelakKevin V ShiannaDongliang GeJessica M MaiaMingfu ZhuJason P SmithElizabeth T CirulliJacques FellaySamuel P DicksonCurtis E GumbsErin L HeinzenAnna C NeedElizabeth K RuzzoAbanish SinghC Ryan CampbellLinda K HongKatharina A LornsenAlexander M McKenzieNara L M SobreiraJulie E Hoover-FongJoshua D MilnerRuth OttmanBarton F HaynesJames J GoedertDavid B GoldsteinWe 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.http://europepmc.org/articles/PMC2936541?pdf=render |
| spellingShingle | Kimberly Pelak Kevin V Shianna Dongliang Ge Jessica M Maia Mingfu Zhu Jason P Smith Elizabeth T Cirulli Jacques Fellay Samuel P Dickson Curtis E Gumbs Erin L Heinzen Anna C Need Elizabeth K Ruzzo Abanish Singh C Ryan Campbell Linda K Hong Katharina A Lornsen Alexander M McKenzie Nara L M Sobreira Julie E Hoover-Fong Joshua D Milner Ruth Ottman Barton F Haynes James J Goedert David B Goldstein The characterization of twenty sequenced human genomes. PLoS Genetics |
| title | The characterization of twenty sequenced human genomes. |
| title_full | The characterization of twenty sequenced human genomes. |
| title_fullStr | The characterization of twenty sequenced human genomes. |
| title_full_unstemmed | The characterization of twenty sequenced human genomes. |
| title_short | The characterization of twenty sequenced human genomes. |
| title_sort | characterization of twenty sequenced human genomes |
| url | http://europepmc.org/articles/PMC2936541?pdf=render |
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