Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 안준용 | - |
dc.date.accessioned | 2022-04-10T02:40:30Z | - |
dc.date.available | 2022-04-10T02:40:30Z | - |
dc.date.created | 2022-04-08 | - |
dc.date.issued | 2017-03 | - |
dc.identifier.issn | 14747596 | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/139848 | - |
dc.description.abstract | Background: Structural variation (SV) influences genome organization and contributes to human disease. However, the complete mutational spectrum of SV has not been routinely captured in disease association studies. Results: We sequenced 689 participants with autism spectrum disorder (ASD) and other developmental abnormalities to construct a genome-wide map of large SV. Using long-insert jumping libraries at 105X mean physical coverage and linked-read whole-genome sequencing from 10X Genomics, we document seven major SV classes at ~5 kb SV resolution. Our results encompass 11,735 distinct large SV sites, 38.1% of which are novel and 16.8% of which are balanced or complex. We characterize 16 recurrent subclasses of complex SV (cxSV), revealing that: (1) cxSV are larger and rarer than canonical SV; (2) each genome harbors 14 large cxSV on average; (3) 84.4% of large cxSVs involve inversion; and (4) most large cxSV (93.8%) have not been delineated in previous studies. Rare SVs are more likely to disrupt coding and regulatory non-coding loci, particularly when truncating constrained and disease-associated genes. We also identify multiple cases of catastrophic chromosomal rearrangements known as chromoanagenesis, including somatic chromoanasynthesis, and extreme balanced germline chrom | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | BIOMED CENTRAL LTD.INFO@BIOMEDCENTRAL.COM | - |
dc.title | Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | 안준용 | - |
dc.identifier.bibliographicCitation | GENOME BIOLOGY, v.18, no.1 | - |
dc.relation.isPartOf | GENOME BIOLOGY | - |
dc.citation.title | GENOME BIOLOGY | - |
dc.citation.volume | 18 | - |
dc.citation.number | 1 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
(02841) 서울특별시 성북구 안암로 14502-3290-1114
COPYRIGHT © 2021 Korea University. All Rights Reserved.
Certain data included herein are derived from the © Web of Science of Clarivate Analytics. All rights reserved.
You may not copy or re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics.