2 hasil untuk "Simone Rubinacci"
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Artikel Jurnal Teks lengkap
Genotype imputation using the Positional Burrows Wheeler Transform
Genotype imputation is the process of predicting unobserved genotypes in a sample of individuals using a reference panel of haplotypes. In the last 10 years reference panels have increased in size by more than 100 fold. Increasing reference panel size improves accuracy of markers with low minor…
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Artikel Jurnal Teks lengkap
Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank
Phasing involves distinguishing the two parentally inherited copies of each chromosome into haplotypes. Here, we introduce SHAPEIT5, a new phasing method that quickly and accurately processes large sequencing datasets and applied it to UK Biobank (UKB) whole-genome and whole-exome sequencing data…