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This Week in Nucleic Acids Research: Jun 6, 2018

Researchers from Aix-Marseille University have developed a new software tool to uncover human disease-causing mutations. As they write in Nucleic Acids Research, the researchers developed the freely available Variant Annotation and Filtration Tool, or VarAFT, which incorporates both classical data such as phylogenetic, conservation and protein structure information, and additional data at the variant, gene and phenotype levels, such as from OMIM, Gene Ontology, and other sources. The tool further enables simultaneous annotation, filtration, and other analyses to home in on candidate pathogenic mutations, the researchers say.

A University of Oslo team has developed Coloc-stats, a web-based service to aid co-localization analyses. Coloc-stats, it says, allows researchers to use multiple co-localization analysis tools — which vary in their methodologies and may give divergent findings — and compare their results. In this way, researchers can gauge the robustness of their findings. The team adds that Coloc-stats is freely available as a web server with a graphical user interface with help pages and FAQs.

Researchers at the Korean company Syntekabio have developed a new variant-calling algorithm named ADIScan2, which they then applied to two pairs of monozygotic twins. This algorithm builds on their previously developed ADIScan1, but now allows the direct comparison of two sets of next-generation sequencing data. Within the two sets of twins, ADIScan2 uncovered about 500 candidate discordant sequences, 200 of which were also predicted by VarScan2. Among these, they identified 66 true discordant sequences. This suggests, they say, that ADIScan1 and ADIScan2 complement existing tools.