Article
VarAFT: a variant annotation and filtration system for human next generation sequencing data.
Nucleic acids research - 2 Jul 2018
Desvignes Jean-Pierre, Bartoli Marc, Delague Valérie, Krahn Martin, Miltgen Morgane, Béroud Christophe, Salgado David
Abstract excerpt
With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In <10 years, these technologies have moved from gene panel to whole genome sequencing and from an exclusively research context to clinical practice. Today, the limit is not the sequencing of one, many or all genes but rather the data...
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