Concerning the eXclusion in human genomics: The choice of sex chromosome representation in the human genome drastically affects number of identified variants

Abstract excerpt

Over the past 30 years, a community of scientists have pieced together every base pair of the human reference genome from telomere-to-telomere. Interestingly, most human genomics studies omit more than 5% of the genome from their analyses. Under ‘normal’ circumstances, omitting any chromosome(s) from analysis of the human genome would be reason for concern—the exception being the sex chromosomes. Sex chromosomes i...

Topics

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• Chromosomal and Genetic Variations
• Chromosomes, Human, X
• Chromosomes, Human, Y
• Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
• Genetic Variation
• Genome, Human
• Prenatal Screening and Diagnostics
• Sequence Alignment

Identifiers and source

Literature Corpus work

6fd21c4d-ac75-5226-8cc0-3d40a3abc063

DOI

10.1101/2023.02.22.529542