Article

Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multicenter consensus reporting guidelines

2023-09-14

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-first ascertainment of novel genetic conditions. The degree to which reported phenotype data in discovery-focused studies address informational priorities for clinicians and families is unclear. <h4>Methods</h4> We identified reports published from 2017-2021 in ten genetics journals of...

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Literature Corpus work: bbfd3e26-a749-564d-8605-982df4790a15
DOI: 10.1101/2023.09.13.23295418

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