Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

OVAS: an open-source variant analysis suite with inheritance modelling.

BMC bioinformatics - 8 Feb 2018

Mozere Monika, Tekman Mehmet, Kari Jameela, Bockenhauer Detlef, Kleta Robert, Stanescu Horia

Abstract excerpt

BACKGROUND: The advent of modern high-throughput genetics continually broadens the gap between the rising volume of sequencing data, and the tools required to process them. The need to pinpoint a small subset of functionally important variants has now shifted towards identifying the critical differences between normal variants and disease-causing ones. The ever-increasing reliance on cloud-based services for...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Databases, Genetic
Share to Inheritance Patterns
Share to Internet

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Models, Genetic

Share to Molecular Sequence Annotation

Share to Software

Share to User-Computer Interface

Share to Web Browser

Source

Open in PubMed Open full text

Identifiers

PMID: 29422027
DOI: 10.1186/s12859-018-2030-8
PMCID: PMC5806474

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

OVAS: an open-source variant analysis suite with inheritance modelling.PMID 29422027Read ↗

ACVI-Med, an open source variant interpretation tool for medical genomics.Semantic proximity Read ↗

Seave: a comprehensive web platform for storing and interrogating human genomic variationSemantic proximity Read ↗

AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic diseaseSemantic proximity Read ↗

SIMPLEX: cloud-enabled pipeline for the comprehensive analysis of exome sequencing data.Semantic proximity Read ↗

VelosGT: Edge-Computing for Human Variant AnalysisSemantic proximity Read ↗

OVarFlow: a resource optimized GATK 4 based Open source Variant calling workFlow.Semantic proximity Read ↗

OVarFlow: a resource optimized GATK 4 based Open source Variant calling workFlowSemantic proximity Read ↗

ETHNOS : A versatile electronic tool for the development and curation of national genetic databases.Semantic proximity Read ↗

OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.Semantic proximity Read ↗

iVar, an Interpretation-Oriented Tool to Manage the Update and Revision of Variant Annotation and ClassificationSemantic proximity Read ↗

iVar, an interpretation-oriented tool to manage the update and revision of variant annotation and classificationSemantic proximity Read ↗

SVlog: a logic programming framework for understanding structural variation in genomic diseaseSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.