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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
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By Springer NatureThis 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