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Literature DB >> 29848615

Variants of Uncertain Significance: Should We Revisit How They Are Evaluated and Disclosed?

Ana Morales¹, Ray E Hershberger^2,3.

Abstract

Entities: Chemical Disease Gene Species

Keywords: Editorials; frustration; genetic counseling; genetic variation; intention; uncertainty

Mesh：

Year: 2018 PMID： 29848615 PMCID： PMC5999032 DOI： 10.1161/CIRCGEN.118.002169

Source DB: PubMed Journal: Circ Genom Precis Med ISSN： 2574-8300

× No keyword cloud information.

14 in total

Review 1. Genetic purgatory and the cardiac channelopathies: Exposing the variants of uncertain/unknown significance issue.

Authors: Michael J Ackerman
Journal: Heart Rhythm Date: 2015-07-02 Impact factor: 6.343

2. Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy: Design and Implementation of the DCM Precision Medicine Study.

Authors: Daniel D Kinnamon; Ana Morales; Deborah J Bowen; Wylie Burke; Ray E Hershberger
Journal: Circ Cardiovasc Genet Date: 2017-12

3. Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification.

Authors: Chloe Reuter; Megan E Grove; Kate Orland; Katherine Spoonamore; Colleen Caleshu
Journal: J Genet Couns Date: 2017-12-12 Impact factor: 2.537

Review 4. Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline.

Authors: Ray E Hershberger; Michael M Givertz; Carolyn Y Ho; Daniel P Judge; Paul F Kantor; Kim L McBride; Ana Morales; Matthew R G Taylor; Matteo Vatta; Stephanie M Ware
Journal: J Card Fail Date: 2018-03-19 Impact factor: 5.712

5. Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.

Authors: Charlotte Burns; Richard D Bagnall; Lien Lam; Christopher Semsarian; Jodie Ingles
Journal: Circ Cardiovasc Genet Date: 2017-08

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

Authors: Karen E Weck
Journal: Genet Med Date: 2018-02-01 Impact factor: 8.822

7. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors: Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal: Genet Med Date: 2015-03-05 Impact factor: 8.822

8. De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

Authors: James R Priest; Kazutoyo Osoegawa; Nebil Mohammed; Vivek Nanda; Ramendra Kundu; Kathleen Schultz; Edward J Lammer; Santhosh Girirajan; Todd Scheetz; Daryl Waggott; Francois Haddad; Sushma Reddy; Daniel Bernstein; Trudy Burns; Jeffrey D Steimle; Xinan H Yang; Ivan P Moskowitz; Matthew Hurles; Richard P Lifton; Debbie Nickerson; Michael Bamshad; Evan E Eichler; Seema Mital; Val Sheffield; Thomas Quertermous; Bruce D Gelb; Michael Portman; Euan A Ashley
Journal: PLoS Genet Date: 2016-04-08 Impact factor: 5.917

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

Authors: Melissa A Kelly; Colleen Caleshu; Ana Morales; Jillian Buchan; Zena Wolf; Steven M Harrison; Stuart Cook; Mitchell W Dillon; John Garcia; Eden Haverfield; Jan D H Jongbloed; Daniela Macaya; Arjun Manrai; Kate Orland; Gabriele Richard; Katherine Spoonamore; Matthew Thomas; Kate Thomson; Lisa M Vincent; Roddy Walsh; Hugh Watkins; Nicola Whiffin; Jodie Ingles; J Peter van Tintelen; Christopher Semsarian; James S Ware; Ray Hershberger; Birgit Funke
Journal: Genet Med Date: 2018-01-04 Impact factor: 8.822