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

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) fro...

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Detalles Bibliográficos
Autores principales: Pinto, Brendan J., O’Connor, Brian, Schatz, Michael C., Zarate, Samantha, Wilson, Melissa A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9980147/
https://www.ncbi.nlm.nih.gov/pubmed/36865318
http://dx.doi.org/10.1101/2023.02.22.529542

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9980147/
https://www.ncbi.nlm.nih.gov/pubmed/36865318
http://dx.doi.org/10.1101/2023.02.22.529542

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