LAUSR

About LAUSR
Donate
Contact Us

Follow us:

You are not signed in:

Sign Up!


   Articles with "variant interpretation" as a keyword



ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

Sign Up to like & get
recommendations! Published in 2018 at "Human Mutation"

DOI: 10.1002/humu.23645

Abstract: Genome‐scale sequencing creates vast amounts of genomic data, increasing the challenge of clinical sequence variant interpretation. The demand for high‐quality interpretation requires multiple specialties to join forces to accelerate the interpretation of sequence variant pathogenicity.… read more here.

Keywords: interpretation; sequence variant; curation; clingen ... See more keywords

CardioVAI: An automatic implementation of ACMG‐AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases

Sign Up to like & get
recommendations! Published in 2018 at "Human Mutation"

DOI: 10.1002/humu.23665

Abstract: Variant interpretation for the diagnosis of genetic diseases is a complex process. The American College of Medical Genetics and Genomics, with the Association for Molecular Pathology, have proposed a set of evidence‐based guidelines to support… read more here.

Keywords: interpretation; diagnosis; implementation; cardiovai ... See more keywords

Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes

Sign Up to like & get
recommendations! Published in 2020 at "Human Mutation"

DOI: 10.1002/humu.23996

Abstract: As comprehensive sequencing technologies gain widespread use, questions about so‐called secondary findings (SF) require urgent consideration. The American College of Medical Genetics and Genomics has recommended to report SF in 59 genes (ACMG SF v2.0)… read more here.

Keywords: arrhythmia syndromes; secondary findings; critical assessment; primary arrhythmia ... See more keywords

Leveling the field: Development of an asynchronous interactive module series for genetic counseling trainees on molecular testing and variant interpretation

Sign Up to like & get
recommendations! Published in 2024 at "Journal of Genetic Counseling"

DOI: 10.1002/jgc4.1853

Abstract: The need for education focusing on genomic technologies and variant interpretation for genetic counseling trainees has prompted genetic counseling training programs to alter their curricula to incorporate this content. Given students' diverse experiences prior to… read more here.

Keywords: counseling; variant interpretation; module series; genetic counseling ... See more keywords
Photo from academic.microsoft.com

Variant Interpretation: Functional Assays to the Rescue.

Sign Up to like & get
recommendations! Published in 2017 at "American journal of human genetics"

DOI: 10.1016/j.ajhg.2017.07.014

Abstract: Classical genetic approaches for interpreting variants, such as case-control or co-segregation studies, require finding many individuals with each variant. Because the overwhelming majority of variants are present in only a few living humans, this strategy… read more here.

Keywords: interpretation; functional assays; genetics; assays rescue ... See more keywords
Photo from wikipedia

Next generation protein structure predictions and genetic variant interpretation.

Sign Up to like & get
recommendations! Published in 2021 at "Journal of molecular biology"

DOI: 10.1016/j.jmb.2021.167180

Abstract: The need to make sense of the thousands of genetic variants uncovered every day in terms of pathology or biological mechanism is acute. Many insights into how genetic changes impact protein function can be gleaned… read more here.

Keywords: protein; structure predictions; structure; next generation ... See more keywords
Photo from wikipedia

Bridging the gap: the need for genomic and clinical -omics data integration and standardization in overcoming the bottleneck of variant interpretation

Sign Up to like & get
recommendations! Published in 2017 at "Expert Review of Precision Medicine and Drug Development"

DOI: 10.1080/23808993.2017.1322897

Abstract: ABSTRACT Introduction: The arrival of next-generation sequencing has brought about a revolution in genomic analysis of disease. One of the major bottlenecks delaying uptake of whole exome and whole genome analysis in the clinic is… read more here.

Keywords: medicine; standardization; interpretation; integration ... See more keywords
Photo from wikipedia

Knowledge bases and software support for variant interpretation in precision oncology.

Sign Up to like & get
recommendations! Published in 2021 at "Briefings in bioinformatics"

DOI: 10.1093/bib/bbab134

Abstract: Precision oncology is a rapidly evolving interdisciplinary medical specialty. Comprehensive cancer panels are becoming increasingly available at pathology departments worldwide, creating the urgent need for scalable cancer variant annotation and molecularly informed treatment recommendations. A… read more here.

Keywords: software; oncology; variant interpretation; knowledge bases ... See more keywords

The promises and pitfalls of automated variant interpretation: a comprehensive review

Sign Up to like & get
recommendations! Published in 2025 at "Briefings in Bioinformatics"

DOI: 10.1093/bib/bbaf545

Abstract: Abstract The interpretation of DNA variants enables personalized medicine through precise diagnosis and treatment selection. To address the challenges of manual interpretation, a wide range of automated tools has been created. This study evaluates these… read more here.

Keywords: interpretation comprehensive; pitfalls automated; variant interpretation; promises pitfalls ... See more keywords

CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase

Sign Up to like & get
recommendations! Published in 2022 at "Nucleic Acids Research"

DOI: 10.1093/nar/gkac979

Abstract: Abstract CIViC (Clinical Interpretation of Variants in Cancer; civicdb.org) is a crowd-sourced, public domain knowledgebase composed of literature-derived evidence characterizing the clinical utility of cancer variants. As clinical sequencing becomes more prevalent in cancer management,… read more here.

Keywords: civicdb; variant interpretation; knowledgebase; interpretation ... See more keywords

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Sign Up to like & get
recommendations! Published in 2017 at "Genome research"

DOI: 10.1101/gr.226589.117

Abstract: Gene panel and exome sequencing have revealed a high rate of molecular diagnoses among diseases where the genetic architecture has proven suitable for sequencing approaches, with a large number of distinct and highly penetrant causal… read more here.

Keywords: epilepsy; medicine; variation; missense ... See more keywords