Impact and characterization of serial structural variations across humans and great apes
Impact and characterization of serial structural variations across humans and great apes
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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Modern sequencing technology enables the systematic detection of complex structural variation (SV) across genomes. However, extensive DNA rearrangements arising through a series of mutations, a phenomenon we refer to as serial SV (sSV), remain underexplored, posing a challenge for SV discovery. Here, we present NAHRwhals (
https://github.com/WHops/NAHRwhals
), a method to infer repeat-mediated series of SVs in long-read genomic assemblies. Applying NAHRwhals to haplotype-resolved human genomes from 28 individuals reveals 37 sSV loci of various length and complexity. These sSVs explain otherwise cryptic variation in medically relevant regions such as the
TPSAB1
gene, 8p23.1, 22q11 and Sot...
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Impact and characterization of serial structural variations across humans and great apes
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TN_cdi_doaj_primary_oai_doaj_org_article_4c219d508eba43c292207434962da475
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4c219d508eba43c292207434962da475
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ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-024-52027-9
