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Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation

Archive ouverte | Billingsley, Kimberley | CCSD

International audience. Abstract Structural variants (SVs) drive gene expression in the human brain and are causative of many neurological conditions. However, most existing genetic studies have been based on short-...

Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes

Archive ouverte | Shafin, Kishwar | CCSD

International audience. Abstract De novo assembly of a human genome using nanopore long-read sequences has been reported, but it used more than 150,000 CPU hours and weeks of wall-clock time. To enable rapid human g...

A draft human pangenome reference

Archive ouverte | Liao, Wen-Wei | CCSD

International audience. Abstract Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetical...

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