ArticleGenome biology2019
Haplotype-aware diplotyping from noisy long reads.
Article in Genome biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
39 citing papers in PubMed.
- A Lightweight Workflow for Targeted Long-Read Transcriptomic Profiling Using Oxford Nanopore Sequencing.Methods and protocols · 2026Article
- Accelerated long-read variant calling with Clair3 for whole-genome sequencing.Bioinformatics (Oxford, England) · 2026Article
- Locityper enables targeted genotyping of complex polymorphic genes.Nature genetics · 2025Article
- Isoform analysis of heterozygous putative splicing variants at the allele level using nanopore long-read sequencing.Scientific reports · 2025Article
- Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing.Scientific reports · 2025Article
- Graphasing: phasing diploid genome assembly graphs with single-cell strand sequencing.Genome biology · 2024Article
- Local read haplotagging enables accurate long-read small variant calling.Nature communications · 2024Article
- Phasing Diploid Genome Assembly Graphs with Single-Cell Strand Sequencing.bioRxiv : the preprint server for biology · 2024Article
- Article
- Phased nanopore assembly with Shasta and modular graph phasing with GFAse.Genome research · 2024Article
- KSNP: a fast de Bruijn graph-based haplotyping tool approaching data-in time cost.Nature communications · 2024Article
- Novel genotype-phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)Human genetics · 2024Article
- Can long-read sequencing tackle the barriers, which the next-generation could not? A review.Pathology oncology research : POR · 2024Review
- Article
- Local read haplotagging enables accurate long-read small variant calling.bioRxiv : the preprint server for biology · 2023Article
- Fine-scale genomic tracking of Ross River virus using nanopore sequencing.Parasites & vectors · 2023Article
- Targeted adaptive long-read sequencing for discovery of complex phased variants in inherited retinal disease patients.Scientific reports · 2023Article
- Phased nanopore assembly with Shasta and modular graph phasing with GFAse.bioRxiv : the preprint server for biology · 2023Article
- Allele detection usingBioinformatics advances · 2023Article
- Targeted de novo phasing and long-range assembly by template mutagenesis.Nucleic acids research · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
Abstract
Current genotyping approaches for single-nucleotide variations rely on short, accurate reads from second-generation sequencing devices. Presently, third-generation sequencing platforms are rapidly becoming more widespread, yet approaches for leveraging their long but error-prone reads for genotyping are lacking. Here, we introduce a novel statistical framework for the joint inference of haplotypes and genotypes from noisy long reads, which we term diplotyping. Our technique takes full advantage of linkage information provided by long reads. We validate hundreds of thousands of candidate variants that have not yet been included in the high-confidence reference set of the Genome-in-a-Bottle effort.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.