Volume 20 Issue 3, March 2018

News Briefs

Reconsidering the duty to warn genetically at-risk relatives

• Mark A Rothstein

Interpretation of genomic sequencing: variants should be considered uncertain until proven guilty

• Karen E Weck

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

• Matthew S Lebo
• Kathleen-Rose Zakoor
• Kathleen-Rose Zakoor

Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases

• Gaber Bergant
• Ales Maver
• Borut Peterlin

“Possibly positive or certainly uncertain?”: participants’ responses to uncertain diagnostic results from exome sequencing

• Debra Skinner
• Myra I Roche
• Gail E Henderson

“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project

• Elizabeth Ormondroyd
• Michael P Mackley
• Hugh Watkins

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

• Kristin McDonald Gibson
• Addie Nesbitt
• Avni Santani

Reactions to clinical reinterpretation of a gene variant by participants in a sequencing study

• Jennifer M Taber
• William M P Klein
• Barbara B Biesecker

Observed frequency and challenges of variant reclassification in a hereditary cancer clinic

• Sarah Macklin
• Nisha Durand
• Stephanie Hines

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

• Melissa A Kelly
• Colleen Caleshu
• Birgit Funke

Catching hidden variation: systematic correction of reference minor allele annotation in clinical variant calling

• Yury A Barbitoff
• Igor V Bezdvornykh
• Alexander V Predeus

Reinterpretation of sequence variants: one diagnostic laboratory’s experience, and the need for standard guidelines

• Caitlin Chisholm
• Hussein Daoud
• Olga Jarinova

Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience

• Austin Bland
• Elizabeth A Harrington
• Colleen Caleshu

Beware the laboratory report: discrepancy in variant classification on reproductive carrier screening

• Aarti Ramdaney
• Diane M Dunn
• Nancy C Rose

Unmet needs in human genomic variant interpretation

• Peter Bauer
• Ellen Karges
• Arndt Rolfs

Peter Bauer, Ellen Karges, Gabriela Oprea and Arndt Rolfs

• Heidi L Rehm

Correction: Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

• Dorota Monies
• Sateesh Maddirevula
• Fowzan S Alkuraya