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

Systematic evaluation of de novo mutation calling tools using whole genome sequencing data.

Briefings in bioinformatics - 1 Nov 2025

Shah Anushi, Monger Steven, Troup Michael, Ip Eddie K K, Giannoulatou Eleni

Abstract excerpt

De novo mutations (DNMs) are genetic alterations that occur for the first time in an offspring. DNMs have been found to be a significant cause of severe developmental disorders. With the widespread use of next-generation sequencing (NGS) technologies, accurate detection of DNMs is crucial. Several bioinformatics tools have been developed to call DNMs from NGS data, but no study to date has systematically compared...

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 Datasets as Topic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to High-Throughput Nucleotide Sequencing

Share to Mutation

Share to Polymorphism, Single Nucleotide

Share to Software

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 41206111
DOI: 10.1093/bib/bbaf543
PMCID: PMC12596277

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

Systematic evaluation of de novo mutation calling tools using whole genome sequencing data.PMID 41206111Read ↗

mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing.Semantic proximity Read ↗

Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios.Semantic proximity Read ↗

HAPDeNovo: a haplotype-based approach for filtering and phasing <i>de novo</i> mutations in linked read sequencing dataSemantic proximity Read ↗

Improved discovery of de novo mutations using TrioDNM and VRFS.Semantic proximity Read ↗

HAPDeNovo: a haplotype-based approach for filtering and phasing de novo mutations in linked read sequencing data.Semantic proximity Read ↗

Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing.Semantic proximity Read ↗

TriosCompass: a snakemake workflow for integrated detection of SNVs, indels, STRs, and structural de novo variants in parent-child trios.Semantic proximity Read ↗

Development of the variant calling algorithm, ADIScan, and its use to estimate discordant sequences between monozygotic twins.Semantic proximity Read ↗

HAT: <i>de novo</i> variant calling for highly accurate short-read and long-read sequencing dataSemantic proximity Read ↗

Best practices for variant calling in clinical sequencing.Semantic proximity Read ↗

Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing.Semantic proximity Read ↗

DeNovoCNN: A deep learning approach to <i>de novo</i> variant calling in next generation sequencing dataSemantic proximity Read ↗

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