Multi-platform discovery of haplotype-resolved structural variation in human genomes
Structural variants (SVs) in human genomes contribute diversity and diseases. Here, the authors use a multi-platform strategy to generate haplotype-resolved SVs for three human parent–child trios.
Guardado en:
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Nature Portfolio
2019
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/1bf8e1b79b09479e9b177f1082c620e1 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:1bf8e1b79b09479e9b177f1082c620e1 |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:1bf8e1b79b09479e9b177f1082c620e12021-12-02T14:39:38ZMulti-platform discovery of haplotype-resolved structural variation in human genomes10.1038/s41467-018-08148-z2041-1723https://doaj.org/article/1bf8e1b79b09479e9b177f1082c620e12019-04-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-08148-zhttps://doaj.org/toc/2041-1723Structural variants (SVs) in human genomes contribute diversity and diseases. Here, the authors use a multi-platform strategy to generate haplotype-resolved SVs for three human parent–child trios.Mark J. P. ChaissonAshley D. SandersXuefang ZhaoAnkit MalhotraDavid PorubskyTobias RauschEugene J. GardnerOscar L. RodriguezLi GuoRyan L. CollinsXian FanJia WenRobert E. HandsakerSusan FairleyZev N. KronenbergXiangmeng KongFereydoun HormozdiariDillon LeeAaron M. WengerAlex R. HastieDanny AntakiThomas AnantharamanPeter A. AudanoHarrison BrandStuart CantsilierisHan CaoEliza CerveiraChong ChenXintong ChenChen-Shan ChinZechen ChongNelson T. ChuangChristine C. LambertDeanna M. ChurchLaura ClarkeAndrew FarrellJoey FloresTimur GaleevDavid U. GorkinMadhusudan GujralVictor GuryevWilliam Haynes HeatonJonas KorlachSushant KumarJee Young KwonErnest T. LamJong Eun LeeJoyce LeeWan-Ping LeeSau Peng LeeShantao LiPatrick MarksKarine Viaud-MartinezSascha MeiersKatherine M. MunsonFabio C. P. NavarroBradley J. NelsonConor NodzakAmina NoorSofia Kyriazopoulou-PanagiotopoulouAndy W. C. PangYunjiang QiuGabriel RosanioMallory RyanAdrian StützDiana C. J. SpieringsAlistair WardAnneMarie E. WelchMing XiaoWei XuChengsheng ZhangQihui ZhuXiangqun Zheng-BradleyErnesto LowySergei YakneenSteven McCarrollGoo JunLi DingChong Lek KohBing RenPaul FlicekKen ChenMark B. GersteinPui-Yan KwokPeter M. LansdorpGabor T. MarthJonathan SebatXinghua ShiAli BashirKai YeScott E. DevineMichael E. TalkowskiRyan E. MillsTobias MarschallJan O. KorbelEvan E. EichlerCharles LeeNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-16 (2019) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q Mark J. P. Chaisson Ashley D. Sanders Xuefang Zhao Ankit Malhotra David Porubsky Tobias Rausch Eugene J. Gardner Oscar L. Rodriguez Li Guo Ryan L. Collins Xian Fan Jia Wen Robert E. Handsaker Susan Fairley Zev N. Kronenberg Xiangmeng Kong Fereydoun Hormozdiari Dillon Lee Aaron M. Wenger Alex R. Hastie Danny Antaki Thomas Anantharaman Peter A. Audano Harrison Brand Stuart Cantsilieris Han Cao Eliza Cerveira Chong Chen Xintong Chen Chen-Shan Chin Zechen Chong Nelson T. Chuang Christine C. Lambert Deanna M. Church Laura Clarke Andrew Farrell Joey Flores Timur Galeev David U. Gorkin Madhusudan Gujral Victor Guryev William Haynes Heaton Jonas Korlach Sushant Kumar Jee Young Kwon Ernest T. Lam Jong Eun Lee Joyce Lee Wan-Ping Lee Sau Peng Lee Shantao Li Patrick Marks Karine Viaud-Martinez Sascha Meiers Katherine M. Munson Fabio C. P. Navarro Bradley J. Nelson Conor Nodzak Amina Noor Sofia Kyriazopoulou-Panagiotopoulou Andy W. C. Pang Yunjiang Qiu Gabriel Rosanio Mallory Ryan Adrian Stütz Diana C. J. Spierings Alistair Ward AnneMarie E. Welch Ming Xiao Wei Xu Chengsheng Zhang Qihui Zhu Xiangqun Zheng-Bradley Ernesto Lowy Sergei Yakneen Steven McCarroll Goo Jun Li Ding Chong Lek Koh Bing Ren Paul Flicek Ken Chen Mark B. Gerstein Pui-Yan Kwok Peter M. Lansdorp Gabor T. Marth Jonathan Sebat Xinghua Shi Ali Bashir Kai Ye Scott E. Devine Michael E. Talkowski Ryan E. Mills Tobias Marschall Jan O. Korbel Evan E. Eichler Charles Lee Multi-platform discovery of haplotype-resolved structural variation in human genomes |
| description |
Structural variants (SVs) in human genomes contribute diversity and diseases. Here, the authors use a multi-platform strategy to generate haplotype-resolved SVs for three human parent–child trios. |
| format |
article |
| author |
Mark J. P. Chaisson Ashley D. Sanders Xuefang Zhao Ankit Malhotra David Porubsky Tobias Rausch Eugene J. Gardner Oscar L. Rodriguez Li Guo Ryan L. Collins Xian Fan Jia Wen Robert E. Handsaker Susan Fairley Zev N. Kronenberg Xiangmeng Kong Fereydoun Hormozdiari Dillon Lee Aaron M. Wenger Alex R. Hastie Danny Antaki Thomas Anantharaman Peter A. Audano Harrison Brand Stuart Cantsilieris Han Cao Eliza Cerveira Chong Chen Xintong Chen Chen-Shan Chin Zechen Chong Nelson T. Chuang Christine C. Lambert Deanna M. Church Laura Clarke Andrew Farrell Joey Flores Timur Galeev David U. Gorkin Madhusudan Gujral Victor Guryev William Haynes Heaton Jonas Korlach Sushant Kumar Jee Young Kwon Ernest T. Lam Jong Eun Lee Joyce Lee Wan-Ping Lee Sau Peng Lee Shantao Li Patrick Marks Karine Viaud-Martinez Sascha Meiers Katherine M. Munson Fabio C. P. Navarro Bradley J. Nelson Conor Nodzak Amina Noor Sofia Kyriazopoulou-Panagiotopoulou Andy W. C. Pang Yunjiang Qiu Gabriel Rosanio Mallory Ryan Adrian Stütz Diana C. J. Spierings Alistair Ward AnneMarie E. Welch Ming Xiao Wei Xu Chengsheng Zhang Qihui Zhu Xiangqun Zheng-Bradley Ernesto Lowy Sergei Yakneen Steven McCarroll Goo Jun Li Ding Chong Lek Koh Bing Ren Paul Flicek Ken Chen Mark B. Gerstein Pui-Yan Kwok Peter M. Lansdorp Gabor T. Marth Jonathan Sebat Xinghua Shi Ali Bashir Kai Ye Scott E. Devine Michael E. Talkowski Ryan E. Mills Tobias Marschall Jan O. Korbel Evan E. Eichler Charles Lee |
| author_facet |
Mark J. P. Chaisson Ashley D. Sanders Xuefang Zhao Ankit Malhotra David Porubsky Tobias Rausch Eugene J. Gardner Oscar L. Rodriguez Li Guo Ryan L. Collins Xian Fan Jia Wen Robert E. Handsaker Susan Fairley Zev N. Kronenberg Xiangmeng Kong Fereydoun Hormozdiari Dillon Lee Aaron M. Wenger Alex R. Hastie Danny Antaki Thomas Anantharaman Peter A. Audano Harrison Brand Stuart Cantsilieris Han Cao Eliza Cerveira Chong Chen Xintong Chen Chen-Shan Chin Zechen Chong Nelson T. Chuang Christine C. Lambert Deanna M. Church Laura Clarke Andrew Farrell Joey Flores Timur Galeev David U. Gorkin Madhusudan Gujral Victor Guryev William Haynes Heaton Jonas Korlach Sushant Kumar Jee Young Kwon Ernest T. Lam Jong Eun Lee Joyce Lee Wan-Ping Lee Sau Peng Lee Shantao Li Patrick Marks Karine Viaud-Martinez Sascha Meiers Katherine M. Munson Fabio C. P. Navarro Bradley J. Nelson Conor Nodzak Amina Noor Sofia Kyriazopoulou-Panagiotopoulou Andy W. C. Pang Yunjiang Qiu Gabriel Rosanio Mallory Ryan Adrian Stütz Diana C. J. Spierings Alistair Ward AnneMarie E. Welch Ming Xiao Wei Xu Chengsheng Zhang Qihui Zhu Xiangqun Zheng-Bradley Ernesto Lowy Sergei Yakneen Steven McCarroll Goo Jun Li Ding Chong Lek Koh Bing Ren Paul Flicek Ken Chen Mark B. Gerstein Pui-Yan Kwok Peter M. Lansdorp Gabor T. Marth Jonathan Sebat Xinghua Shi Ali Bashir Kai Ye Scott E. Devine Michael E. Talkowski Ryan E. Mills Tobias Marschall Jan O. Korbel Evan E. Eichler Charles Lee |
| author_sort |
Mark J. P. Chaisson |
| title |
Multi-platform discovery of haplotype-resolved structural variation in human genomes |
| title_short |
Multi-platform discovery of haplotype-resolved structural variation in human genomes |
| title_full |
Multi-platform discovery of haplotype-resolved structural variation in human genomes |
| title_fullStr |
Multi-platform discovery of haplotype-resolved structural variation in human genomes |
| title_full_unstemmed |
Multi-platform discovery of haplotype-resolved structural variation in human genomes |
| title_sort |
multi-platform discovery of haplotype-resolved structural variation in human genomes |
| publisher |
Nature Portfolio |
| publishDate |
2019 |
| url |
https://doaj.org/article/1bf8e1b79b09479e9b177f1082c620e1 |
| work_keys_str_mv |
AT markjpchaisson multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT ashleydsanders multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT xuefangzhao multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT ankitmalhotra multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT davidporubsky multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT tobiasrausch multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT eugenejgardner multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT oscarlrodriguez multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT liguo multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT ryanlcollins multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT xianfan multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT jiawen multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT robertehandsaker multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT susanfairley multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT zevnkronenberg multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT xiangmengkong multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT fereydounhormozdiari multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT dillonlee multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT aaronmwenger multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT alexrhastie multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT dannyantaki multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT thomasanantharaman multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT peteraaudano multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT harrisonbrand multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT stuartcantsilieris multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT hancao multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT elizacerveira multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT chongchen multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT xintongchen multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT chenshanchin multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT zechenchong multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT nelsontchuang multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT christineclambert multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT deannamchurch multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT lauraclarke multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT andrewfarrell multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT joeyflores multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT timurgaleev multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT davidugorkin multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT madhusudangujral multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT victorguryev multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT williamhaynesheaton multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT jonaskorlach multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT sushantkumar multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT jeeyoungkwon multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT ernesttlam multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT jongeunlee multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT joycelee multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT wanpinglee multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT saupenglee multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT shantaoli multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT patrickmarks multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT karineviaudmartinez multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT saschameiers multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT katherinemmunson multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT fabiocpnavarro multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT bradleyjnelson multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT conornodzak multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT aminanoor multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT sofiakyriazopouloupanagiotopoulou multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT andywcpang multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT yunjiangqiu multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT gabrielrosanio multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT malloryryan multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT adrianstutz multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT dianacjspierings multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT alistairward multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT annemarieewelch multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT mingxiao multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT weixu multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT chengshengzhang multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT qihuizhu multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT xiangqunzhengbradley multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT ernestolowy multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT sergeiyakneen multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT stevenmccarroll multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT goojun multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT liding multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT chonglekkoh multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT bingren multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT paulflicek multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT kenchen multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT markbgerstein multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT puiyankwok multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT petermlansdorp multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT gabortmarth multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT jonathansebat multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT xinghuashi multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT alibashir multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT kaiye multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT scottedevine multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT michaeletalkowski multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT ryanemills multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT tobiasmarschall multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT janokorbel multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT evaneeichler multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes AT charleslee multiplatformdiscoveryofhaplotyperesolvedstructuralvariationinhumangenomes |
| _version_ |
1718390520307253248 |