ABSTRACT
Significant advances have been made in recent years in the assessment and interpretation of the non-coding DNA that comprises 98% of our genome. Studying non-coding variants helps us better understand gene regulation and expression, non-coding RNA, and other non-coding genome functions. The 2016 annual scientific meeting of the Human Genome Variation Society (HGVS; http://www.hgvs.org) was held on the 18th of October in Vancouver, British Colombia, Canada, on the topic of “Non-Coding Variation”. By using multiple data sets and wide-ranging methods including in vitro assays, high-throughput functional assays, statistical, machine learning, and other computational analyses, important sequence motifs, and the effect of variants in these regions, are being better understood. This year's meeting explored these methodologies and the effects of genetic variation in non-coding regions on human disease and other phenotypes.
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