Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency.

doi:10.1016/j.jmoldx.2021.04.007

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Article

Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency.

The Journal of molecular diagnostics : JMD - 1 Jul 2021

Sundercombe Samantha Leigh, Berbic Marina, Evans Carey-Anne, Cliffe Corrina, Elakis George, Temple Suzanna E L, Selvanathan Arthavan, Ewans Lisa, Quayum Nila, Nixon Cheng-Yee, Dias Kerith-Rae, Lang Sarah, Richards Anna, Goh Shuxiang, Wilson Meredith, Mowat David, Sachdev Rani, Sandaradura Sarah, Walsh Maie, Farrar Michelle A, Walsh Rebecca, Fletcher Janice, Kirk Edwin P, Teunisse Guus M, Schofield Deborah, Buckley Michael Francis, Zhu Ying, Roscioli Tony

Abstract excerpt

Massively parallel sequencing has markedly improved mendelian diagnostic rates. This study assessed the effects of custom alterations to a diagnostic genomic bioinformatic pipeline in response to clinical need and derived practice recommendations relative to diagnostic rates and efficiency. The Genomic Annotation and Interpretation Application (GAIA) bioinformatics pipeline was designed to detect panel, exome,...

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PMID: 33962052
DOI: 10.1016/j.jmoldx.2021.04.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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