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A comparative investigation of variant calling and genotyping for a single non-Caucasian whole genome
Most genome benchmark studies utilize hg38 as a reference genome (based on Caucasian and African samples) and ‘NA12878’ (a Caucasian sequencing read) for comparison. Here, we aimed to elucidate whether 1) ethnic match or mismatch between the reference genome and sequencing reads produces a distinct...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
American Journal Experts
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10029055/ https://www.ncbi.nlm.nih.gov/pubmed/36945432 http://dx.doi.org/10.21203/rs.3.rs-2580940/v1 |