A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
Structural variants (SVs) are prevalent in genomes of the general population. Here, Guryev and The Genome of the Netherlands Consortium describe the reference panel of haplotype-resolved SVs from 769 individuals from 250 Dutch families and show its utility for studying heritable traits.
Guardado en:
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Nature Portfolio
2016
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/cc53ee49aa484f2a8f1598343fa7c306 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:cc53ee49aa484f2a8f1598343fa7c306 |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:cc53ee49aa484f2a8f1598343fa7c3062021-12-02T14:38:53ZA high-quality human reference panel reveals the complexity and distribution of genomic structural variants10.1038/ncomms129892041-1723https://doaj.org/article/cc53ee49aa484f2a8f1598343fa7c3062016-10-01T00:00:00Zhttps://doi.org/10.1038/ncomms12989https://doaj.org/toc/2041-1723Structural variants (SVs) are prevalent in genomes of the general population. Here, Guryev and The Genome of the Netherlands Consortium describe the reference panel of haplotype-resolved SVs from 769 individuals from 250 Dutch families and show its utility for studying heritable traits.Jayne Y. Hehir-KwaTobias MarschallWigard P. KloostermanLaurent C. FrancioliJasmijn A. BaaijensLouis J. DijkstraAbdel AbdellaouiVyacheslav KovalDjie Tjwan ThungRené WardenaarIvo RenkensBradley P. CoePatrick DeelenJoep de LigtEric-Wubbo LameijerFreerk van DijkFereydoun HormozdiariThe Genome of the Netherlands ConsortiumAndré G. UitterlindenCornelia M. van DuijnEvan E. EichlerPaul I. W. de BakkerMorris A. SwertzCisca WijmengaGert-Jan B. van OmmenP. Eline SlagboomDorret I. BoomsmaAlexander SchönhuthKai YeVictor GuryevNature PortfolioarticleScienceQENNature Communications, Vol 7, Iss 1, Pp 1-10 (2016) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q Jayne Y. Hehir-Kwa Tobias Marschall Wigard P. Kloosterman Laurent C. Francioli Jasmijn A. Baaijens Louis J. Dijkstra Abdel Abdellaoui Vyacheslav Koval Djie Tjwan Thung René Wardenaar Ivo Renkens Bradley P. Coe Patrick Deelen Joep de Ligt Eric-Wubbo Lameijer Freerk van Dijk Fereydoun Hormozdiari The Genome of the Netherlands Consortium André G. Uitterlinden Cornelia M. van Duijn Evan E. Eichler Paul I. W. de Bakker Morris A. Swertz Cisca Wijmenga Gert-Jan B. van Ommen P. Eline Slagboom Dorret I. Boomsma Alexander Schönhuth Kai Ye Victor Guryev A high-quality human reference panel reveals the complexity and distribution of genomic structural variants |
| description |
Structural variants (SVs) are prevalent in genomes of the general population. Here, Guryev and The Genome of the Netherlands Consortium describe the reference panel of haplotype-resolved SVs from 769 individuals from 250 Dutch families and show its utility for studying heritable traits. |
| format |
article |
| author |
Jayne Y. Hehir-Kwa Tobias Marschall Wigard P. Kloosterman Laurent C. Francioli Jasmijn A. Baaijens Louis J. Dijkstra Abdel Abdellaoui Vyacheslav Koval Djie Tjwan Thung René Wardenaar Ivo Renkens Bradley P. Coe Patrick Deelen Joep de Ligt Eric-Wubbo Lameijer Freerk van Dijk Fereydoun Hormozdiari The Genome of the Netherlands Consortium André G. Uitterlinden Cornelia M. van Duijn Evan E. Eichler Paul I. W. de Bakker Morris A. Swertz Cisca Wijmenga Gert-Jan B. van Ommen P. Eline Slagboom Dorret I. Boomsma Alexander Schönhuth Kai Ye Victor Guryev |
| author_facet |
Jayne Y. Hehir-Kwa Tobias Marschall Wigard P. Kloosterman Laurent C. Francioli Jasmijn A. Baaijens Louis J. Dijkstra Abdel Abdellaoui Vyacheslav Koval Djie Tjwan Thung René Wardenaar Ivo Renkens Bradley P. Coe Patrick Deelen Joep de Ligt Eric-Wubbo Lameijer Freerk van Dijk Fereydoun Hormozdiari The Genome of the Netherlands Consortium André G. Uitterlinden Cornelia M. van Duijn Evan E. Eichler Paul I. W. de Bakker Morris A. Swertz Cisca Wijmenga Gert-Jan B. van Ommen P. Eline Slagboom Dorret I. Boomsma Alexander Schönhuth Kai Ye Victor Guryev |
| author_sort |
Jayne Y. Hehir-Kwa |
| title |
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants |
| title_short |
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants |
| title_full |
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants |
| title_fullStr |
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants |
| title_full_unstemmed |
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants |
| title_sort |
high-quality human reference panel reveals the complexity and distribution of genomic structural variants |
| publisher |
Nature Portfolio |
| publishDate |
2016 |
| url |
https://doaj.org/article/cc53ee49aa484f2a8f1598343fa7c306 |
| work_keys_str_mv |
AT jayneyhehirkwa ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT tobiasmarschall ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT wigardpkloosterman ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT laurentcfrancioli ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT jasmijnabaaijens ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT louisjdijkstra ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT abdelabdellaoui ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT vyacheslavkoval ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT djietjwanthung ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT renewardenaar ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT ivorenkens ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT bradleypcoe ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT patrickdeelen ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT joepdeligt ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT ericwubbolameijer ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT freerkvandijk ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT fereydounhormozdiari ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT thegenomeofthenetherlandsconsortium ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT andreguitterlinden ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT corneliamvanduijn ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT evaneeichler ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT pauliwdebakker ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT morrisaswertz ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT ciscawijmenga ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT gertjanbvanommen ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT pelineslagboom ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT dorretiboomsma ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT alexanderschonhuth ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT kaiye ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT victorguryev ahighqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT jayneyhehirkwa highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT tobiasmarschall highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT wigardpkloosterman highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT laurentcfrancioli highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT jasmijnabaaijens highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT louisjdijkstra highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT abdelabdellaoui highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT vyacheslavkoval highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT djietjwanthung highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT renewardenaar highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT ivorenkens highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT bradleypcoe highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT patrickdeelen highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT joepdeligt highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT ericwubbolameijer highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT freerkvandijk highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT fereydounhormozdiari highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT thegenomeofthenetherlandsconsortium highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT andreguitterlinden highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT corneliamvanduijn highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT evaneeichler highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT pauliwdebakker highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT morrisaswertz highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT ciscawijmenga highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT gertjanbvanommen highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT pelineslagboom highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT dorretiboomsma highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT alexanderschonhuth highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT kaiye highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants AT victorguryev highqualityhumanreferencepanelrevealsthecomplexityanddistributionofgenomicstructuralvariants |
| _version_ |
1718390860189532160 |