Characteristics of de novo structural changes in the human genome
Small insertions and deletions (indels) and large structural variations (SVs) are major contributors to human genetic diversity and disease. However, mutation rates and characteristics of de novo indels and SVs in the general population have remained largely unexplored. We report 332 validated de novo structural changes identified in whole genomes of 250 families, including complex indels, retrotransposon insertions, and interchromosomal events. These data indicate a mutation rate of 2.94 indels (1-20 bp) and 0.16 SVs (>20 bp) per generation. De novo structural changes affect on average 4.1... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2015 |
Reihe/Periodikum: | Genome Research, vol 25, iss 6 |
Verlag/Hrsg.: |
eScholarship
University of California |
Schlagwörter: | Genetics / Human Genome / Alleles / Amino Acid Sequence / Female / Genetic Variation / Genome / Human / Genomics / Haplotypes / Humans / INDEL Mutation / Male / Molecular Sequence Data / Mutation Rate / Polymorphism / Single Nucleotide / Retroelements / Sequence Alignment / Sequence Analysis / DNA / Genome of Netherlands Consortium / Biological Sciences / Medical and Health Sciences / Bioinformatics |
Sprache: | unknown |
Permalink: | https://search.fid-benelux.de/Record/base-27570894 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://escholarship.org/uc/item/1vz5t8mc |