ReviewCurrent protocols in human genetics2016
In Silico Functional Annotation of Genomic Variation.
Review in Current protocols in human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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
16 citing papers in PubMed.
- Obesity/Overweight as a Meaningful Modifier of Associations Between Gene Polymorphisms Affecting the Sex Hormone-Binding Globulin Content and Uterine Myoma.Life (Basel, Switzerland) · 2025Article
- Maternal Age at Menarche Genes Determines Fetal Growth Restriction Risk.International journal of molecular sciences · 2024Article
- USP7/Maged1-mediated H2A monoubiquitination in the paraventricular thalamus: an epigenetic mechanism involved in cocaine use disorder.Nature communications · 2023Article
- GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data.Nucleic acids research · 2022Article
- Purging of deleterious burden in the endangered Iberian lynx.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Clustering suicidal phenotypes and genetic associations with brain-derived neurotrophic factor in patients with substance use disorders.Translational psychiatry · 2021Article
- Review on the Computational Genome Annotation of Sequences Obtained by Next-Generation Sequencing.Biology · 2020Review
- Significant Association between Microrna Gene Polymorphisms and Type 2 Diabetes Mellitus Susceptibility in Asian Population: A Meta-Analysis.Iranian journal of public health · 2020Review
- Molecular profiling for precision cancer therapies.Genome medicine · 2020Review
- Prediction of impacts of mutations on protein structure and interactions: SDM, a statistical approach, and mCSM, using machine learning.Protein science : a publication of the Protein Society · 2020Article
- GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data.BMC bioinformatics · 2019Article
- Exome sequencing in genomic regions related to racing performance of Quarter Horses.Journal of applied genetics · 2019Article
- Bridging the Gaps in Personalized Medicine Value Assessment: A Review of the Need for Outcome Metrics across Stakeholders and Scientific Disciplines.Public health genomics · 2019Review
- Innovative strategies for annotating the "relationSNP" between variants and molecular phenotypes.BioData mining · 2019Review
- Insights IntoFrontiers in genetics · 2018Article
- Comprehensive genotyping in dyslipidemia: mendelian dyslipidemias caused by rare variants and Mendelian randomization studies using common variants.Journal of human genetics · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
This unit describes the concepts and practical techniques for annotating genomic variants in the human genome to estimate their functional significance. With the rapid increase of available whole exome and whole genome sequencing information for human studies, annotation techniques have become progressively more important for highlighting and prioritizing nucleotide variants and their potential impact on genes and other genetic constructs. Here, we present an overview of different types of variant annotation approaches and elaborate on their foundations, assumptions, and the downstream consequences of their use. Computational approaches and tools to assign annotations and to identify variants are reviewed. Further, the general philosophy of assigning potential function to a genetic change within the biological context of a disease is discussed.
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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.