Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.

doi:10.1007/s00439-024-02664-3

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Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.

Human genetics - 1 May 2024

Ferrer Alejandro, Duffy Patrick, Olson Rory J, Meiners Michael A, Schultz-Rogers Laura, Macke Erica L, Safgren Stephanie, Morales-Rosado Joel A, Cousin Margot A, Oliver Gavin R, Rider David, Williams Megan, Pichurin Pavel N, Deyle David R, Morava Eva, Gavrilova Ralitza H, Dhamija Radhika, Wierenga Klass J, Lanpher Brendan C, Babovic-Vuksanovic Dusica, Kaiwar Charu, Vitek Carolyn R, McAllister Tammy M, Wick Myra J, Schimmenti Lisa A, Lazaridis Konstantinos N, Vairo Filippo Pinto E, Klee Eric W

Abstract excerpt

Most rare disease patients (75-50%) undergoing genomic sequencing remain unsolved, often due to lack of information about variants identified. Data review over time can leverage novel information regarding disease-causing variants and genes, increasing this diagnostic yield. However, time and resource constraints have limited reanalysis of genetic data in clinical laboratories setting. We developed RENEW,...

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PMID: 38538918
DOI: 10.1007/s00439-024-02664-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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