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Multi-platform discovery of haplotype-resolved structural variation in human genomes
- Title
- Multi-platform discovery of haplotype-resolved structural variation in human genomes
- Authors
- Chaisson M.J.P.; Sanders A.D.; Zhao X.; Malhotra A.; Porubsky D.; Rausch T.; Gardner E.J.; Rodriguez O.L.; Guo L.; Collins R.L.; Fan X.; Wen J.; Handsaker R.E.; Fairley S.; Kronenberg Z.N.; Kong X.; Hormozdiari F.; Lee D.; Wenger A.M.; Hastie A.R.; Antaki D.; Anantharaman T.; Audano P.A.; Brand H.; Cantsilieris S.; Cao H.; Cerveira E.; Chen C.; Chen X.; Chin C.-S.; Chong Z.; Chuang N.T.; Lambert C.C.; Church D.M.; Clarke L.; Farrell A.; Flores J.; Galeev T.; Gorkin D.U.; Gujral M.; Guryev V.; Heaton W.H.; Korlach J.; Kumar S.; Kwon J.Y.; Lam E.T.; Lee J.E.; Lee J.; Lee W.-P.; Lee S.P.; Li S.; Marks P.; Viaud-Martinez K.; Meiers S.; Munson K.M.; Navarro F.C.P.; Nelson B.J.; Nodzak C.; Noor A.; Kyriazopoulou-Panagiotopoulou S.; Pang A.W.C.; Qiu Y.; Rosanio G.; Ryan M.; Stütz A.; Spierings D.C.J.; Ward A.; Welch A.M.E.; Xiao M.; Xu W.; Zhang C.; Zhu Q.; Zheng-Bradley X.; Lowy E.; Yakneen S.; McCarroll S.; Jun G.; Ding L.; Koh C.L.; Ren B.; Flicek P.; Chen K.; Gerstein M.B.; Kwok P.-Y.; Lansdorp P.M.; Marth G.T.; Sebat J.; Shi X.; Bashir A.; Ye K.; Devine S.E.; Talkowski M.E.; Mills R.E.; Marschall T.; Korbel J.O.; Eichler E.E.; Lee C.
- Ewha Authors
- Charles Lee
- SCOPUS Author ID
- Charles Lee
- Issue Date
- 2019
- Journal Title
- Nature Communications
- ISSN
- 2041-1723
- Citation
- Nature Communications vol. 10, no. 1
- Publisher
- Nature Publishing Group
- Indexed
- SCIE; SCOPUS
- Document Type
- Article
- Abstract
- The incomplete identification of structural variants (SVs) from whole-genome sequencing data limits studies of human genetic diversity and disease association. Here, we apply a suite of long-read, short-read, strand-specific sequencing technologies, optical mapping, and variant discovery algorithms to comprehensively analyze three trios to define the full spectrum of human genetic variation in a haplotype-resolved manner. We identify 818,054 indel variants (<50 bp) and 27,622 SVs (≥50 bp) per genome. We also discover 156 inversions per genome and 58 of the inversions intersect with the critical regions of recurrent microdeletion and microduplication syndromes. Taken together, our SV callsets represent a three to sevenfold increase in SV detection compared to most standard high-throughput sequencing studies, including those from the 1000 Genomes Project. The methods and the dataset presented serve as a gold standard for the scientific community allowing us to make recommendations for maximizing structural variation sensitivity for future genome sequencing studies. © 2019, The Author(s).
- DOI
- 10.1038/s41467-018-08148-z
- Appears in Collections:
- 자연과학대학 > 생명과학전공 > Journal papers
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