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Aggregated genomic data as cohort-specific allelic frequencies can boost variants and genes prioritization in non-solved cases of inherited retinal dystrophies

2022-05-10

Abstract excerpt

The introduction of NGS in genetic diagnosis has increased the repertoire of variants and genes involved and the amount of genomic information produced. We built an allelic-frequency (AF) database for a heterogeneous cohort of genetic diseases to explore the aggregated genomic information and boost diagnosis in inherited retinal dystrophies (IRD). We retrospectively selected 5683 index-cases with clinical exome se...

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Literature Corpus work
9e16b6fb-3bca-54cd-800a-7357e89b92a5
DOI
10.1101/2022.05.09.22274851
Open publication

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Aggregated genomic data as cohort-specific allelic frequencies can boost variants and genes prioritization in non-solved cases of inherited retinal dystrophiesDOI 10.1101/2022.05.09.22274851
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