CONGA: Copy number variation genotyping in ancient genomes and low-coverage sequencing data

Abstract excerpt

<h4> A bstract </h4> To date, ancient genome analyses have been largely confined to the study of single nucleotide polymorphisms (SNPs). Copy number variants (CNVs) are a major contributor of disease and of evolutionary adaptation, but identifying CNVs in ancient shotgun-sequenced genomes is hampered by typical low coverage (<1 ×) and short fragments (<80 bps), precluding standard CNV detection software to be e...

Topics

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• DNA, Ancient
• DNA Copy Number Variations
• Genetics, Population
• Genome, Human
• Genomics
• Genotype
• Polymorphism, Single Nucleotide
• Sequence Analysis, DNA

Identifiers and source

Literature Corpus work

8ef90750-b76a-5e8b-a8f4-571e75a18e29

DOI

10.1101/2021.12.17.473150