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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...
Autores principales: | Pinto, Brendan J., O’Connor, Brian, Schatz, Michael C., Zarate, Samantha, Wilson, Melissa A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory
2023
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Materias: | |
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 |
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