Article

Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population

2019-06-19

Abstract excerpt

<h4>Background</h4> A substantial portion of Mendelian disease patients suffers from genetic variants that are inherited in a recessive manner. A precise understanding of pathogenic recessive variants in a population would assist in pre-screening births of such patients. However, a systematic understanding of the contribution of recessive variants to Mendelian diseases is still lacking. <h4>Methods</h4> Genetic...

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Literature Corpus work: e91e7729-3f01-5353-a506-840d55d14490
DOI: 10.1101/675868

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