Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
- Authors
- 안준용
- Issue Date
- 3월-2017
- Publisher
- BIOMED CENTRAL LTD.INFO@BIOMEDCENTRAL.COM
- Citation
- GENOME BIOLOGY, v.18, no.1
- Indexed
- SCIE
SCOPUS
- Journal Title
- GENOME BIOLOGY
- Volume
- 18
- Number
- 1
- URI
- https://scholar.korea.ac.kr/handle/2021.sw.korea/139848
- ISSN
- 14747596
- 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
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Collections - College of Health Sciences > School of Biosystems and Biomedical Sciences > 1. Journal Articles
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