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Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.

Journal of human genetics - 1 May 2021

Aref-Eshghi Erfan, Kerkhof Jennifer, Carere Deana Alexis, Volodarsky Michael, Bhai Pratibha, Colaiacovo Samantha, Saleh Maha, Caudle Michelle, Karp Natalya, Prasad Chitra, Balci Tugce, Lin Hanxin, Campbell Craig, Siu Victoria Mok, Sadikovic Bekim

Abstract excerpt

The adaptation of a broad genomic sequencing approach in the clinical setting has been accompanied by considerations regarding the clinical utility, technical performance, and diagnostic yield compared to targeted genetic approaches. We have developed MedExome, an integrated framework for sequencing, variant calling (SNVs, Indels, and CNVs), and clinical assessment of ~4600 medically relevant genes. We compared...

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PMID: 33093641
DOI: 10.1038/s10038-020-00860-3

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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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