ArticleNature methods2013
DeNovoGear: de novo indel and point mutation discovery and phasing.
Article in Nature methods, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 112 papers, 1 of them a synthesis that pooled it.
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Who cites it
112 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes.Molecular psychiatry · 2026Article
- Census and genetic analysis of the United States marmoset population.bioRxiv : the preprint server for biology · 2026Article
- Improved discovery of de novo mutations using TrioDNM and VRFS.GigaScience · 2026Article
- Genomic landscape of autism spectrum disorder in Brazil.Genetics and molecular biology · 2026Article
- A practical framework for predicting splicing single nucleotide variants in exome sequencing.NAR genomics and bioinformatics · 2025Article
- Systematic evaluation of de novo mutation calling tools using whole genome sequencing data.Briefings in bioinformatics · 2025Article
- SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing.Nature methods · 2025Article
- Unraveling genetic risk contributions to nonverbal status in autism spectrum disorder probands.Behavioral and brain functions : BBF · 2025Article
- Efficient identification of de novo mutations in family trios: a consensus-based informatic approach.Life science alliance · 2025Article
- Understanding rare variant contributions to autism: lessons from dystrophin-deficient model.NPJ genomic medicine · 2025Article
- Post-implantation analysis of genomic variations in the progeny from developing fetus to birth.Human genomics · 2024Article
- Automated Identification of GermlinebioRxiv : the preprint server for biology · 2024Article
- A naturally occurring variant ofGenome research · 2023Article
- Identification of de novo Mutations in the Chinese Autism Spectrum Disorder Cohort via Whole-Exome Sequencing Unveils Brain Regions Implicated in Autism.Neuroscience bulletin · 2023Article
- Three generation families: Analysis of de novo variants in autism.European journal of human genetics : EJHG · 2023Article
- Technological and computational approaches to detect somatic mosaicism in epilepsy.Neurobiology of disease · 2023Review
- Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair.Nature communications · 2023Article
- The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.Epilepsia open · 2023Article
- Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.The New England journal of medicine · 2023Article
52 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.
Funding
Abstract
We present DeNovoGear software for analyzing de novo mutations from familial and somatic tissue sequencing data. DeNovoGear uses likelihood-based error modeling to reduce the false positive rate of mutation discovery in exome analysis and fragment information to identify the parental origin of germ-line mutations. We used DeNovoGear on human whole-genome sequencing data to produce a set of predicted de novo insertion and/or deletion (indel) mutations with a 95% validation rate.
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