ReviewFrontiers in genetics2014
Mappability and read length.
Review in Frontiers in genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
What it found
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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
33 citing papers in PubMed.
- Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic.Nature biotechnology · 2026Article
- Determinants of haplotype phasing accuracy in long-read human genome sequencing.bioRxiv : the preprint server for biology · 2026Article
- Integrative analysis of in silico predictions and clinical evidence to delineate the capability of HiFi long-read sequencing in paralogous genes.NPJ genomic medicine · 2026Article
- MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening.Journal of translational medicine · 2026Article
- MER57E3 transposable elements regulate gene expression in a human cell model of neural development.Genome biology · 2026Article
- GMP-like and MLP-like Subpopulations of Hematopoietic Stem and Progenitor Cells Harboring MutatedInternational journal of molecular sciences · 2025Article
- Embed-Search-Align: DNA sequence alignment using Transformer models.Bioinformatics (Oxford, England) · 2025Article
- Characterization of novel human endogenous retrovirus structures on chromosomes 6 and 7.Frontiers in genetics · 2025Article
- Analysis of Tandem Repeats in Short-Read Sequencing Data: From Genotyping Known Pathogenic Repeats to Discovering Novel Expansions.Current protocols · 2024Article
- DeepSomatic: Accurate somatic small variant discovery for multiple sequencing technologies.bioRxiv : the preprint server for biology · 2024Article
- Local read haplotagging enables accurate long-read small variant calling.Nature communications · 2024Article
- Disregarding multimappers leads to biases in the functional assessment of NGS data.BMC genomics · 2024Article
- Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.Nucleic acids research · 2024Article
- Performance analysis of conventional and AI-based variant callers using short and long reads.BMC bioinformatics · 2023Article
- Local read haplotagging enables accurate long-read small variant calling.bioRxiv : the preprint server for biology · 2023Article
- Scalable detection of technically challenging variants through modified next-generation sequencing.Molecular genetics & genomic medicine · 2022Article
- Article
- Multi-Omic Investigations of a 17-19 Translocation LinksInternational journal of molecular sciences · 2022Article
- Recent Bioinformatic Progress to Identify Epigenetic Changes Associated to Transposable Elements.Frontiers in genetics · 2022Review
- New insights into the evolution of human Y chromosome palindromes through mutation and gene conversion.Human molecular genetics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
Power-law distributions are the main functional form for the distribution of repeat size and repeat copy number in the human genome. When the genome is broken into fragments for sequencing, the limited size of fragments and reads may prevent an unique alignment of repeat sequences to the reference sequence. Repeats in the human genome can be as long as 10(4) bases, or 10(5) - 10(6) bases when allowing for mismatches between repeat units. Sequence reads from these regions are therefore unmappable when the read length is in the range of 10(3) bases. With a read length of 1000 bases, slightly more than 1% of the assembled genome, and slightly less than 1% of the 1 kb reads, are unmappable, excluding the unassembled portion of the human genome (8% in GRCh37/hg19). The slow decay (long tail) of the power-law function implies a diminishing return in converting unmappable regions/reads to become mappable with the increase of the read length, with the understanding that increasing read length will always move toward the direction of 100% mappability.
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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.