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

A Comprehensive Bioinformatics Approach to Analysis of Variants: Variant Calling, Annotation, and Prioritization.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2025

Koroglu Merve Nur, Bilguvar Kaya

Abstract excerpt

Next-Generation Sequencing (NGS), also known as high-throughput sequencing technologies, has enabled rapid and efficient sequencing of large amounts of DNA and RNA. These technologies have revolutionized the field of genomics, transcriptomics, and proteomics and have been widely used in cancer research, leading to advances in clinical diagnosis and treatment. Improvements in the NGS technologies enabled millions...

Read the complete abstract on PubMed

Topics

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

Share to Computational Biology
Share to Genetic Variation
Share to Genomics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Molecular Sequence Annotation

Share to Software

Source

Identifiers

PMID: 39745615
DOI: 10.1007/978-1-0716-4322-8_15

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Comprehensive Bioinformatics Approach to Analysis of Variants: Variant Calling, Annotation, and Prioritization.PMID 39745615Read ↗

Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis.Semantic proximity Read ↗

Integrating massively parallel sequencing into diagnostic workflows and managing the annotation and clinical interpretation challenge.Semantic proximity Read ↗

Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis.Semantic proximity Read ↗

An overview of the analysis of next generation sequencing data.Semantic proximity Read ↗

Computational methods and resources for the interpretation of genomic variants in cancer.Semantic proximity Read ↗

Variant calling: Considerations, practices, and developments.Semantic proximity Read ↗

A survey of tools for variant analysis of next-generation genome sequencing data.Semantic proximity Read ↗

In Silico Functional Annotation of Genomic Variation.Semantic proximity Read ↗

A practical guide to filtering and prioritizing genetic variants.Semantic proximity Read ↗

Discovering, Genotyping, and Annotating Structural Variants with the Genome Analysis Toolkit (GATK).Semantic proximity Read ↗

Genetic variation analysis for biomedical researchers: a primer.Semantic proximity Read ↗

Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial.Semantic proximity Read ↗

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