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The Globally search for a Regular Expression and Print matching lines (GREP) strategy: an innovative reanalysis strategy combining bibliographic monitoring with fast GREP directly applied to a massive genomic database to rapidly improve diagnosis

2022-03-09

Abstract excerpt

<h4>Purpose: </h4> Exome sequencing has a diagnostic yield ranging from 25% to 70% in rare diseases and regularly implicates genes in novel disorders. Prospective data reanalysis has demonstrated strong efficacy in improving diagnosis, but poses organizational difficulties for clinical laboratories. We applied a reanalysis strategy based on intensive prospective bibliographic monitoring, and directly applied the G...

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Literature Corpus work: 211688ed-4d61-5d44-9e5d-aa2b34135436
DOI: 10.22541/au.164684924.40795659/v1

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