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ESHG

ESHG: Short-Read Genome Sequencing Boosts Rare Disease Diagnoses in European Solve-RD Project
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So far, 90 out of 836 or about 10 percent of families who were analyzed by short-read genome sequencing as part of Solve-RD have received a diagnosis.

ESHG: UK Study Finds 6 Percent of Renal Cell Carcinoma Patients Carry Cancer Risk Variant

Researchers looked for pathogenic or likely pathogenic variants in 121 cancer risk genes in whole-genome sequencing data from 1,336 unselected RCC patients.

At ESHG, Thermo Fisher Official Predicts IVDR Will Push Labs to Replace LDTs With Commercial Kits
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Europe's new In Vitro Diagnostic Regulation is reshaping the way that laboratories in the region use in-house assays for diagnostics.

New ESHG Recommendations for Clinical Whole-Genome Sequencing Show Differences From US Guidelines
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Previous guidelines for clinical NGS, published by the society in collaboration with EuroGenTest in 2016, focused mainly on whole-exome sequencing.

ESHG, ACMG Differ Starkly in Recommendations for Reporting Secondary Findings From Genomic Tests

During a session at the ASHG 2020 virtual meeting, representatives from both organizations laid out the reasons for their contrasting guidelines.