Increased mutation and gene conversion within human segmental duplications
Increased mutation and gene conversion within human segmental duplications
About this item
Full title
Author / Creator
Human Pangenome Reference Consortium , Vollger, Mitchell R. , Dishuck, Philip C. , Harvey, William T. , DeWitt, William S. , Guitart, Xavi , Goldberg, Michael E. , Rozanski, Allison N. , Lucas, Julian , Asri, Mobin , Munson, Katherine M. , Lewis, Alexandra P. , Hoekzema, Kendra , Logsdon, Glennis A. , Porubsky, David , Paten, Benedict , Harris, Kelley , Hsieh, PingHsun and Eichler, Evan E.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
Single-nucleotide variants (SNVs) in segmental duplications (SDs) have not been systematically assessed because of the limitations of mapping short-read sequencing data
1
,
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. Here we constructed 1:1 unambiguous alignments spanning high-identity SDs across 102 human haplotypes and compared the pattern of SNVs between unique and duplica...
Alternative Titles
Full title
Increased mutation and gene conversion within human segmental duplications
Authors, Artists and Contributors
Author / Creator
Vollger, Mitchell R.
Dishuck, Philip C.
Harvey, William T.
DeWitt, William S.
Guitart, Xavi
Goldberg, Michael E.
Rozanski, Allison N.
Lucas, Julian
Asri, Mobin
Munson, Katherine M.
Lewis, Alexandra P.
Hoekzema, Kendra
Logsdon, Glennis A.
Porubsky, David
Paten, Benedict
Harris, Kelley
Hsieh, PingHsun
Eichler, Evan E.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10172114
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10172114
Other Identifiers
ISSN
0028-0836,1476-4687
E-ISSN
1476-4687
DOI
10.1038/s41586-023-05895-y
