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Article

Optimising diagnostic yield in highly penetrant genomic disease

2022-07-25

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Pediatric disorders include a range of highly genetically heterogeneous conditions that are amenable to genome-wide diagnostic approaches. Finding a molecular diagnosis is challenging but can have profound lifelong benefits. <h4>Methods</h4> The Deciphering Developmental Disorders (DDD) study recruited >33,500 individuals from families with severe, likely monogenic development...

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Literature Corpus work
26cf91c1-2b21-54a4-9776-c698e05c1645
DOI
10.1101/2022.07.25.22278008
Open publication

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Optimising diagnostic yield in highly penetrant genomic diseaseDOI 10.1101/2022.07.25.22278008
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