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

Over the past 30 years, a community of scientists has 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...

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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: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10542555/
https://www.ncbi.nlm.nih.gov/pubmed/37497639
http://dx.doi.org/10.1093/g3journal/jkad169