ArticleBioinformatics advances2023
Allele detection using
Article in Bioinformatics advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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
1 citing paper in PubMed, 1 citations in OpenAlex.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Motivation: For genotype and haplotype inference, typically, sequencing reads aligned to a reference genome are used. The alignments identify the genomic origin of the reads and help to infer the absence or presence of sequence variants in the genome. Since long sequencing reads often come with high rates of systematic sequencing errors, single nucleotides in the reads are not always correctly aligned to the reference genome, which can thus lead to wrong conclusions about the allele carried by a sequencing read at the variant site. Thus, allele detection is not a trivial task, especially for single-nucleotide polymorphisms and indels. Results: To learn the characteristics of sequencing errors, we introduce a method to create an error model in non-variant regions of the genome. This information is later used to distinguish sequencing errors from alternative alleles in variant regions. We show that our method, Availability and implementation: https://github.com/whatshap/whatshap.
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.