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Genepod - Shedding light on intragenic deletions and duplications

EPISODE · Jul 23, 2018 · 6 MIN

Genepod - Shedding light on intragenic deletions and duplications

from Springer Nature · host Springer Nature

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

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Genepod - Shedding light on intragenic deletions and duplications

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