KinformR - Relationship-Informed Pedigree and Variant Scoring
Comparative evaluation of families and candidate variants in rare-variant association studies. The package can be used for two methodologically overlapping but distinct purposes. First, the prior to any genetic or genomic evaluation, evaluation of relative detection power of pedigrees, can direct recruitment efforts by showing which individuals not yet sampled would be the most meaningful additions to a study. Second, after sequencing and analysis, variants based on association with disease status and familial relationships of individuals, aids in variant prioritization. Methodology is described in Nugent (2025) <doi:10.1101/2025.10.06.25337426>.
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bioinformaticsgeneticsgenomicspedigree-analysis
4.95 score 1 stars 5 scripts 150 downloadsdebar - A Post-Clustering Denoiser for COI-5P Barcode Data
The 'debar' sequence processing pipeline is designed for denoising high throughput sequencing data for the animal DNA barcode marker cytochrome c oxidase I (COI). The package is designed to detect and correct insertion and deletion errors within sequencer outputs. This is accomplished through comparison of input sequences against a profile hidden Markov model (PHMM) using the Viterbi algorithm (for algorithm details see Durbin et al. 1998, ISBN: 9780521629713). Inserted base pairs are removed and deleted base pairs are accounted for through the introduction of a placeholder character. Since the PHMM is a probabilistic representation of the COI barcode, corrections are not always perfect. For this reason 'debar' censors base pairs adjacent to reported indel sites, turning them into placeholder characters (default is 7 base pairs in either direction, this feature can be disabled). Testing has shown that this censorship results in the correct sequence length being restored, and erroneous base pairs being masked the vast majority of the time (>95%).
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bioinformaticsdenoisingdna-barcodingdna-sequencinghidden-markov-modelmachine-learning
2.70 score 1 stars 8 scripts 162 downloads