ArticleNucleic acids research2018
VarAFT: a variant annotation and filtration system for human next generation sequencing data.
Article in Nucleic acids research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 116 papers, 1 of them a synthesis that pooled it.
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Who cites it
116 citing papers in PubMed, 1 synthesis or guideline pooled it, 194 citations in OpenAlex.
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- ACE-Dependent Alzheimer's Disease: Circulating ACE Phenotypes in Heterozygous Carriers of RareInternational journal of molecular sciences · 2025Article
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- A PARK7 Mutation-Induced Early-Onset Parkinson's Disease in a Moroccan Family: Expanding the Geographic Spectrum.Movement disorders clinical practice · 2025Article
- Investigating the Role of the Zinc Finger Protein ZC2HC1C on Autism Spectrum Disorder Susceptibility.Medicina (Kaunas, Lithuania) · 2025Article
- An Oxford Nanopore Technologies-Based Sequencing Assay for Molecular Diagnosis of Phenylketonuria and Variant Frequencies in a Turkish Cohort.International journal of genomics · 2025Article
- Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?PloS one · 2025Article
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- ENaC gene variants and their involvement in Covid‑19 severity.Biomedical reports · 2024Article
- Endophilin A2 Deficiency Impairs Antibody Production in Humans.Journal of clinical immunology · 2024Article
- Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data.Human genomics · 2024Review
- Investigation of BMP6 mutations in Brazilian patients with iron overload.Hematology, transfusion and cell therapy · 2024Article
56 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In <10 years, these technologies have moved from gene panel to whole genome sequencing and from an exclusively research context to clinical practice. Today, the limit is not the sequencing of one, many or all genes but rather the data analysis. Consequently, the challenge is to rapidly and efficiently identify disease-causing mutations within millions of variants. To do so, we developed the VarAFT software to annotate and pinpoint human disease-causing mutations through access to multiple layers of information. VarAFT was designed both for research and clinical contexts and is accessible to all scientists, regardless of bioinformatics training. Data from multiple samples may be combined to address all Mendelian inheritance modes, cancers or population genetics. Optimized filtration parameters can be stored and re-applied to large datasets. In addition to classical annotations from dbNSFP, VarAFT contains unique features at the disease (OMIM), phenotypic (HPO), gene (Gene Ontology, pathways) and variation levels (predictions from UMD-Predictor and Human Splicing Finder) that can be combined to optimally select candidate pathogenic mutations. VarAFT is freely available at: http://varaft.eu.
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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.