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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Our paper on de novo noncoding variants in complex phenotypes is published in Human Genetics and Genomics Advances!
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Human Genetics and Genomics Advances
2023
4(3):100210
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