ArticleAmerican journal of human genetics2014
Annotating DNA variants is the next major goal for human genetics.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 36 citations in OpenAlex.
- Genotypic and phenotypic spectrum of maple syrup urine disease in Zhejiang of China.QJM : monthly journal of the Association of Physicians · 2024Article
- High-Throughput Microscopy Characterization of RareJACC. Basic to translational science · 2023Article
- What's in a Name? Parents' and Healthcare Professionals' Preferred Terminology for Pathogenic Variants in Childhood Cancer Predisposition Genes.Journal of personalized medicine · 2022Article
- Automated prediction of the clinical impact of structural copy number variations.Scientific reports · 2022Article
- Response to Biesecker et al.American journal of human genetics · 2021Article
- Basic and Preclinical Research for Personalized Medicine.Journal of personalized medicine · 2021Review
- Review on the Computational Genome Annotation of Sequences Obtained by Next-Generation Sequencing.Biology · 2020Review
- Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.Genome medicine · 2019Article
- eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.Human mutation · 2019Article
- The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results.Mayo Clinic proceedings · 2018Article
- Expert Knowledge Influences Decision-Making for Couples Receiving Positive Prenatal Chromosomal Microarray Testing Results.Culture, medicine and psychiatry · 2017Article
- The current state of clinical interpretation of sequence variants.Current opinion in genetics & development · 2017Review
- Parents' Perspectives on Variants of Uncertain Significance from Chromosome Microarray Analysis.Journal of genetic counseling · 2016Article
- A catalog of hemizygous variation in 127 22q11 deletion patients.Human genome variation · 2016Article
- The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- In Silico Functional Annotation of Genomic Variation.Current protocols in human genetics · 2016Review
- Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.PLoS genetics · 2015Article
- Cystic fibrosis genetics: from molecular understanding to clinical application.Nature reviews. Genetics · 2015Review
- Developing genomic knowledge bases and databases to support clinical management: current perspectives.Pharmacogenomics and personalized medicine · 2014Review
- When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes.The review of diabetic studies : RDSReview
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Clinical genetic testing has undergone a dramatic transformation in the past two decades. Diagnostic laboratories that previously tested for well-established disease-causing DNA variants in a handful of genes have evolved into sequencing factories identifying thousands of variants of known and unknown medical consequence. Sorting out what does and does not cause disease in our genomes is the next great challenge in making genetics a central feature of healthcare. I propose that closing the gap in our ability to interpret variation responsible for Mendelian disorders provides a grand and unprecedented opportunity for geneticists. Human geneticists are well placed to coordinate a systematic evaluation of variants in collaboration with basic scientists and clinicians. Sharing of knowledge, data, methods, and tools will aid both researchers and healthcare workers in achieving their common goal of defining the pathogenic potential of variants. Generation of variant annotations will inform genetic testing and will deepen our understanding of gene and protein function, thereby aiding the search for molecular targeted therapies.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.