ASHG 2026 · Diagnostics & clinical labs
Quest Diagnostics at ASHG 2026
Madison, New Jersey
Quest Diagnostics at ASHG 2026 in Montréal: 5 presentations (5 posters).
5
presentations on the program
1
Reviewers’ Choice abstracts
| Organization | ASHG 2026 Attendance |
|---|---|
Quest Diagnostics Madison, New Jersey | 1 Senior Staff Genomic Variant Scientist · 1 Genomic Variant Scientist III · 1 Sr Manager, Variant Science · 1 Senior Director, Genetics · 1 other presenter |
Clinical laboratory and diagnostic information provider selling genetic tests, advanced diagnostics, and lab services to clinicians, health systems, pharma, biotech, and CROs.
| Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Calibration of population allele frequency evidence for clinical variant classification using a variant-based disease allele frequency threshold determination methodClinical geneticsVariant interpretationGenetic testingLaboratory genetics and genomics Poster Wed Oct 21 2:30 pm Variant-based thresholds for applying population frequency evidence enable increased variant reclassification rates towards benign Genetic testingVariant interpretationLaboratory genetics and genomicsClinical genetics Poster Wed Oct 21 2:30 pm Variant-based gene-specific frequency thresholds for variant classification using ACMG guidelines remain stable across population variant frequency database updates Genetic testingVariant interpretationLaboratory genetics and genomicsClinical genetics Poster Fri Oct 23 2:30 pm Co-occurrence of CLCN1 variants with myotonic dystrophy repeat expansions (DM1/DM2) ChannelopathiesLaboratory genetics and genomicsMuscular abnormalitiesVariant interpretation Poster Fri Oct 23 2:30 pm Detection of Repeat Expansions via PacBio Long-Read Sequencing in Patients Tested for Repeat Expansion Disorders AtaxiaTriplet and other repeatsLong-read sequencingDiagnostics |
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