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variants of unknown significance

Clinical Validation of Cancer Genome Interpretation Platform at Heart of New €10M European Project
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Among the objectives of the CGI-Clinics effort is to have a CE-IVD marked analysis tool available by the end of 2027.

UK Team Makes Recommendations for Interpreting Variants in Noncoding Regions
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The guidelines come at a time of a shift in the field toward clinical whole-genome sequencing and away from targeted assays and whole-exome sequencing.

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.

BRCA2 Variants of Unknown Significance Reclassified Through Functional Data Additions

Researchers reclassified 86 percent of variants initially determined to be VUS, potentially changing surveillance or treatment approaches for patients.

Qiagen Takes Over Commercial Sales of Sanger's COSMIC Database
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The partners hope that the relationship will expand the reach of the COSMIC database for somatic tumor mutations while also fine-tuning future technology development.

Nov 12, 2020

Quest Diagnostics Win in Wrongful Death Case Reveals Ongoing Challenges for Variant Classification

Aug 3, 2020

Ancestry Rolls Out Sequencing-Based Health Offering Focused on Common Conditions
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May 29, 2020

Patients Having Ovaries Removed Without Clear Genetic, Medical Rationale, Study Suggests
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Feb 11, 2020

Quest Files Motion for Summary Judgment in Wrongful Death Lawsuit

Jan 9, 2020

With More Than a Million Records, ClinVar Value Grows as Variant Classification Resource
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Oct 4, 2019

Adding RNA-Seq, Ambry Genetics Expects to Reduce VUS Results in Hereditary Cancer Tests
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Aug 20, 2019

Genomenon Enters Chinese Market With Shanghai Shanyi Partnership

Jun 27, 2019

MedSeq Team Reports Genome Analysis, Reanalysis Results for 100 Participants

Jun 4, 2019

Patients With Pathogenic Breast Cancer Variants May Receive Treatment That Deviates From Guidelines
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Apr 1, 2019

First Epigenetic Signature Test for Inherited Disorders to Launch in the US, Europe
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Jan 17, 2019

UK Biobank Dataset Helps Elucidate Pathogenicity of Rare Genetic Variants

Nov 16, 2018

NSGC: Clinical Variant Interpretation Continues After Lab Reports Issued

Nov 6, 2018

Childhood Epilepsy Diagnoses Shift With Genomic Reinterpretation

Oct 23, 2018

Quest Diagnostics Wrongful Death Lawsuit Ordered to Move to Discovery

Oct 12, 2018

Publications Highlight Findings Emerging From ClinGen Program

Sep 12, 2018

Saturation Editing of BRCA1 Exons Reveals Functional, Non-Functional Variants

Sep 6, 2018

Sanford Health Lab Aims to Refine Genetic Testing Panels With Genoox Classification Tool
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Jul 3, 2018

In Williams v Quest, State Supreme Court Leaves Room for Plaintiff to Argue Ordinary Negligence

Jun 13, 2018

Researchers Predict Classification of Thousands of BRCA1/2 Missense Variants Using In Silico Models
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May 10, 2018

Multi-Gene Hereditary Breast Cancer Tests Double Detection Rate; Don't Spur Breast Removal

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The Scan

UK Team Presents Genetic, Epigenetic Sequencing Method

Using enzymatic DNA preparation steps, researchers in Nature Biotechnology develop a strategy for sequencing DNA, along with 5-methylcytosine and 5-hydroxymethylcytosine, on existing sequencers.

DNA Biobank Developed for French Kidney Donors, Recipients

The KiT-GENIE biobank described in the European Journal of Human Genetics contains DNA samples, genotyping profiles, immune patterns, and clinical features for thousands of kidney donors or transplant recipients in Nantes, France.

Cardiometabolic Disease May Have Distinct Associations With Microbial Metabolites in Blood, Gut

By analyzing gut microbes in combination with related metabolites in feces and blood, researchers in Nature Communications found distinct cardiometabolic disease relationships at each site.

Study Reveals New Details About Genetics of Major Cause of Female Infertility

Researchers in Nature Medicine conducted a whole-exome sequencing study of mote than a thousand patients with premature ovarian insufficiency.