Genepod - Shedding light on intragenic deletions and duplications

This month's GenePod focuses on new, extensive data of intragenic deletion/duplication analysis in over 143,000 individuals. Such data are helping to sort out innocent del/dups from those causative of disease and reinforce the need to perform such analysis as part of genomic testing to determine disease etiology. Related articles: Prevalence and properties of intragenic copy-number variation in Mendelian disease genes https://www.nature.com/articles/s41436-018-0033-5