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By Andrea Anderson

NEW YORK (GenomeWeb News) – A Wellcome Trust Sanger Institute and Yale University-led team has sifted through data from three 1000 Genomes Project pilot efforts to find a set of authentic loss-of-function variants in the human genome.

The work offers a peek at the types of genes typically affected by these changes and clues for distinguishing disease-related variants from those that are more harmless.

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In PLOS this week: gene variant may protect against trypanosomiasis, GLIS3 role in type 2 diabetes, and more.

Sep
16
Sponsored by
ArcherDX

This webinar will discuss a next-generation sequencing approach for detecting genomic mutations in hematologic maglignancies.

Oct
23
Sponsored by
Swift Biosciences

This webinar will illustrate how single-cell methylation sequencing can be applied to gain significant insight into epigenetic heterogeneity in disease states, advancing cancer research discoveries.