Focus on Genomic Variant Interpretation

Genetics in Medicine

Content

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
- Mayher J. Patel
- Marina T. DiStefano
- ClinGen Hearing Loss Clinical Domain Working Group
Brief Communication6 Jul 2021 Genetics in Medicine
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
- Jérémie Courraud
- Eric Chater-Diehl
- Amélie Piton
Article3 Aug 2021 Genetics in Medicine
A framework for automated gene selection in genomic applications
- L. Lazo de la Vega
- W. Yu
- M. S. Lebo
Brief Communication10 Jun 2021 Genetics in Medicine
GenomeDiver: a platform for phenotype-guided medical genomic diagnosis
- Nathaniel M. Pearson
- Christian Stolte
- John M. Greally
Brief Communication10 Jun 2021 Genetics in Medicine
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation
- Stephen E. Lincoln
- Tina Hambuch
- Robert L. Nussbaum
ArticleOpen Access18 May 2021 Genetics in Medicine
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
- David T. Miller
- Kristy Lee
- ACMG Secondary Findings Working Group
ACMG Statement20 May 2021 Genetics in Medicine
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility
- Jennifer J. Johnston
- Robert T. Dirksen
- Leslie G. Biesecker
Article25 Mar 2021 Genetics in Medicine
Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy
- Christopher M. Richmond
- Paul A. James
- Ivan Macciocca
Article10 Feb 2021 Genetics in Medicine
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
- Yuri A. Zarate
- Tomoko Uehara
- Kenjiro Kosaki
Article25 Jan 2021 Genetics in Medicine
The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disorders
- Avi Fellner
- Noa Ruhrman-Shahar
- Lina Basel-Salmon
Article20 Jan 2021 Genetics in Medicine
Evaluating the molecular diagnostic yield of joint genotyping–based approach for detecting rare germline pathogenic and putative loss-of-function variants
- Sabrina Y. Camp
- Eric Kofman
- Saud H. AlDubayan
Article2 Feb 2021 Genetics in Medicine
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
- Bekim Sadikovic
- Michael A. Levy
- Marielle Alders
ArticleOpen Access5 Feb 2021 Genetics in Medicine
Evaluating variants classified as pathogenic in ClinVar in the DDD Study
- Caroline F. Wright
- Ruth Y. Eberhardt
- on behalf of the DDD Study
Brief CommunicationOpen Access5 Nov 2020 Genetics in Medicine
Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance
- Paulo C. M. Lyra Jr
- Thales C. Nepomuceno
- Alvaro N. A. Monteiro
ArticleOpen Access22 Oct 2020 Genetics in Medicine
The role of clinical response to treatment in determining pathogenicity of genomic variants
- Joseph J. Shen
- Saskia B. Wortmann
- Madhuri R. Hegde
Brief Communication22 Oct 2020 Genetics in Medicine
Impact of integrated translational research on clinical exome sequencing
- Eric W. Klee
- Margot A. Cousin
- Konstantinos N. Lazaridis
Article4 Nov 2020 Genetics in Medicine
Analysis of laboratory reporting practices using a quality assessment of a virtual patient
- Danya F. Vears
- Martin Elferink
- Koen L. van Gassen
Article30 Oct 2020 Genetics in Medicine
Interpreting the impact of noncoding structural variation in neurodevelopmental disorders
- Eva D’haene
- Sarah Vergult
Review ArticleOpen Access25 Sep 2020 Genetics in Medicine
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
- Xiaolei Zhang
- Roddy Walsh
- James S. Ware
ArticleOpen Access13 Oct 2020 Genetics in Medicine
Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis
- Chloe Mighton
- Salma Shickh
- Yvonne Bombard
Systematic Review14 Sep 2020 Genetics in Medicine
A novel statistical method for interpreting the pathogenicity of rare variants
- Jun Wang
- Hehe Liu
- Rui Chen
Article4 Sep 2020 Genetics in Medicine
Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time
- Jeroen van Rooij
- Pascal Arp
- Annemieke J. M. H. Verkerk
ArticleOpen Access15 Jul 2020 Genetics in Medicine
Considerations in assessing germline variant pathogenicity using cosegregation analysis
- Sophie Belman
- Michael T. Parsons
- Bing-Jian Feng
Article10 Aug 2020 Genetics in Medicine
Assessment of technical heterogeneity among diagnostic tests to detect germline risk variants for hematopoietic malignancies
- Gregory W. Roloff
- Lucy A. Godley
- Michael W. Drazer
Brief Communication18 Aug 2020 Genetics in Medicine
When phenotype does not match genotype: importance of “real-time” refining of phenotypic information for exome data interpretation
- Lina Basel-Salmon
- Noa Ruhrman-Shahar
- Lily Bazak
Brief Communication17 Aug 2020 Genetics in Medicine
Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc
- Shana Verschuere
- Nastassia Navassiolava
- Olivier M. Vanakker
Article2 Sep 2020 Genetics in Medicine
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions
- Tomasz Gambin
- Qian Liu
- Paweł Stankiewicz
Article13 Jul 2020 Genetics in Medicine
A six-attribute classification of genetic mosaicism
- Víctor Martínez-Glez
- Jair Tenorio
- Pablo Lapunzina
Review Article14 Jul 2020 Genetics in Medicine
Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing
- My Linh Thibodeau
- Kieran O’Neill
- Steven J. M. Jones
Brief CommunicationOpen Access6 Jul 2020 Genetics in Medicine
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
- Bo Yuan
- Lei Wang
- Weimin Bi
Article24 Jun 2020 Genetics in Medicine
A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants
- Corey L. Anderson
- Tim C. Routes
- Timothy J. Kamp
Article1 Jun 2020 Genetics in Medicine
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses
- Kelly Schoch
- Queenie K.-G. Tan
- Vandana Shashi
Article5 May 2020 Genetics in Medicine
Biases in arginine codon usage correlate with genetic disease risk
- Katharina V. Schulze
- Neil A. Hanchard
- Michael F. Wangler
Brief Communication6 May 2020 Genetics in Medicine
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2
- Romy L. S. Mesman
- Fabienne M. G. R. Calléja
- Maaike P. G. Vreeswijk
ArticleOpen Access13 May 2020 Genetics in Medicine
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis
- Joseph T. Alaimo
- Kevin E. Glinton
- Sarah H. Elsea
Brief Communication22 May 2020 Genetics in Medicine
CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
- Joshua L. Deignan
- Caroline Astbury
- ACMG Laboratory Quality Assurance Committee
ACMG Technical Standard14 May 2020 Genetics in Medicine
Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq
- Joseph K. Aicher
- Paul Jewell
- Elizabeth J. Bhoj
Article30 Mar 2020 Genetics in Medicine
Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)
- Daniela del Gaudio
- Marwan Shinawi
- ACMG Laboratory Quality Assurance Committee
ACMG Statement16 Apr 2020 Genetics in Medicine
Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)
- Marilyn M. Li
- Elizabeth Chao
- ACMG Professional Practice and Guidelines Committee
ACMG Statement23 Apr 2020 Genetics in Medicine
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance
- Htoo A. Wai
- Jenny Lord
- Splicing and disease working group
ArticleOpen Access3 Mar 2020 Genetics in Medicine
A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement
- Annie Niehaus
- Danielle R. Azzariti
- Heidi L. Rehm
Comment23 Jan 2019 Genetics in Medicine
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
- Sue Richards
- Nazneen Aziz
- ; on behalf of the ACMG Laboratory Quality Assurance Committee
ACMG Standards and Guidelines5 Mar 2015 Genetics in Medicine
Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC)
- Fady M. Mikhail
- Jaclyn A. Biegel
- Gordana Raca
ACMG Technical Standard29 May 2019 Genetics in Medicine
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)
- Erin Rooney Riggs
- Erica F. Andersen
- Christa Lese Martin
ACMG Technical Standard6 Nov 2019 Genetics in Medicine
Interpretation of mitochondrial tRNA variants
- Lee-Jun C. Wong
- Ting Chen
- William J. Craigen
Article22 Jan 2020 Genetics in Medicine

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