Our paper on de novo noncoding variants in complex phenotypes is published in Human Genetics and Genomics Advances!

Our paper on de novo noncoding variants in complex phenotypes is published in Human Genetics and Genomics Advances! This perspective examines why discovering disease-relevant de novo variants in noncoding DNA remains difficult for genetically complex phenotypes. It highlights the large background of candidate variants, context-dependent regulatory effects, incomplete functional annotations, and limited cohort sizes, and lays out priorities for more effective screening and interpretation. Congratulations to Christopher on leading this work!

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