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

Genepod - Shedding light on intragenic deletions and duplications

Having the conversations your cooler friends won't.

Welcome to the Springer Nature Soundcloud page! Here you will find several podcasts from our journals across a range of scientific subjects, including Gene Pod, ModPath Chat, Pediapod, Hereditypod and Brainpod.