ArticleiScience2019
Kevlar: A Mapping-Free Framework for Accurate Discovery of De Novo Variants.
Article in iScience, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- An alignment-free strategy for circulating tumor DNA detection and tumor fraction estimation from whole-genome sequencing data.PLoS computational biology · 2026Article
- A k-mer-based estimator of the substitution rate between repetitive sequences.Algorithms for molecular biology : AMB · 2026Article
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- K-mer-based Approaches to Bridging Pangenomics and Population Genetics.Molecular biology and evolution · 2025Review
- Taming large-scale genomic analyses via sparsified genomics.Nature communications · 2025Article
- A k-mer-Based Estimator of the Substitution Rate Between Repetitive Sequences.Algorithms in bioinformatics : ... International Workshop, WABI ..., proceedings. WABI (Workshop) · 2025Article
- On weighted k-mer dictionaries.Algorithms for molecular biology : AMB · 2023Article
- Detecting gene breakpoints in noisy genome sequences using position-annotated colored de-Bruijn graphs.BMC bioinformatics · 2023Article
- The Statistics ofJournal of computational biology : a journal of computational molecular cell biology · 2022Article
- Effective sequence similarity detection with strobemers.Genome research · 2021Article
- Disk compression of k-mer sets.Algorithms for molecular biology : AMB · 2021Article
- Nebula: ultra-efficient mapping-free structural variant genotyper.Nucleic acids research · 2021Article
- Fast lightweight accurate xenograft sorting.Algorithms for molecular biology : AMB · 2021Article
- Bivartect: accurate and memory-saving breakpoint detection by direct read comparison.Bioinformatics (Oxford, England) · 2020Article
- Concordance of SNP- and allele-based typing workflows in the context of a large-scale internationalMicrobial genomics · 2020Article
- metaVaR: Introducing metavariant species models for reference-free metagenomic-based population genomics.PloS one · 2020Article
- KmerGO: A Tool to Identify Group-Specific Sequences WithFrontiers in microbiology · 2020Article
- Article
- Article
Corrections and comments
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Authors and funding
3 authors.
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Abstract
De novo genetic variants are an important source of causative variation in complex genetic disorders. Many methods for variant discovery rely on mapping reads to a reference genome, detecting numerous inherited variants irrelevant to the phenotype of interest. To distinguish between inherited and de novo variation, sequencing of families (parents and siblings) is commonly pursued. However, standard mapping-based approaches tend to have a high false-discovery rate for de novo variant prediction. Kevlar is a mapping-free method for de novo variant discovery, based on direct comparison of sequences between related individuals. Kevlar identifies high-abundance k-mers unique to the individual of interest. Reads containing these k-mers are partitioned into disjoint sets by shared k-mer content for variant calling, and preliminary variant predictions are sorted using a probabilistic score. We evaluated Kevlar on simulated and real datasets, demonstrating its ability to detect both de novo single-nucleotide variants and indels with high accuracy.
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