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NEW YORK (GenomeWeb) – Startups in Canada and France are combining their genomic analysis and machine learning technology in pursuit of faster, more accurate diagnoses of rare conditions.

Toronto-based Gene42, maker of software that supports precision medicine programs, is partnering with SeqOne, a French developer of a genome analysis platform, to augment gene sequences with phenotypic data from clinical encounters. This collaboration, the companies said today, will address the estimated 80 percent of rare diseases with genetic causes.

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In PLOS this week: genetic factors influencing inorganic arsenic metabolism and toxicity, a germline variant in the cell adhesion molecule-coding gene DSCAM, and more.

Mar
28
Sponsored by
Qiagen

The Human Gene Mutation Database (HGMD) is a manually curated, comprehensive collection of disease-causing, germline mutations. Since 1996, a team of experts has manually catalogued over a quarter of a million mutations for the database.  

Apr
09
Sponsored by
Sophia Genetics

This webinar will present the utility of a personalized in silico analytical approach for the routine clinical diagnosis of channelopathies and cardiomyopathies. 

May
07
Sponsored by
Agilent

This webinar will discuss the implementation of an enterprise-wide clinical genomics platform that is shared across 10 hospitals and research organizations in the Australian State of Victoria.