<![CDATA[BOL: Related items]]> https://bioinformaticsonline.com/related/43850?offset=260 https://bioinformaticsonline.com/bookmarks/view/42963/davi-deep-learning-based-tool-for-alignment-and-single-nucleotide-variant-identification Tue, 16 Mar 2021 05:41:33 -0500 https://bioinformaticsonline.com/bookmarks/view/42963/davi-deep-learning-based-tool-for-alignment-and-single-nucleotide-variant-identification <![CDATA[DAVI: Deep learning-based tool for alignment and single nucleotide variant identification]]> DAVI consists of models for both global and local alignment and for variant calling. We have evaluated the performance of DAVI against existing state-of-the-art tool sets and found that its accuracy and performance is comparable to existing tools used for bench-marking. We further demonstrate that while existing tools are based on data generated from a specific sequencing technology, the models proposed in DAVI are generic and can be used across different NGS technologies as well as across different species

https://iopscience.iop.org/article/10.1088/2632-2153/ab7e19/pdf

Address of the bookmark: https://github.com/gguptaiitd/NEAT

]]> Jit https://bioinformaticsonline.com/bookmarks/view/40699/kevler-reference-free-variant-discovery-in-large-eukaryotic-genomes Tue, 28 Jan 2020 03:21:53 -0600 https://bioinformaticsonline.com/bookmarks/view/40699/kevler-reference-free-variant-discovery-in-large-eukaryotic-genomes <![CDATA[Kevler: Reference-free variant discovery in large eukaryotic genomes]]> Welcome to kevlar, software for predicting de novo genetic variants without mapping reads to a reference genome! kevlar's k-mer abundance based method calls single nucleotide variants (SNVs), multinucleotide variants (MNVs), insertion/deletion variants (indels), and structural variants (SVs) simultaneously with a single simple model. 

More at https://kevlar.readthedocs.io/en/latest/

https://www.cell.com/iscience/pdf/S2589-0042(19)30259-7.pdf

Address of the bookmark: https://github.com/kevlar-dev/kevlar

]]> Jit https://bioinformaticsonline.com/bookmarks/view/41730/parliament2-runs-a-combination-of-tools-to-generate-structural-variant-calls-on-whole-genome-sequencing-data Thu, 28 May 2020 21:57:03 -0500 https://bioinformaticsonline.com/bookmarks/view/41730/parliament2-runs-a-combination-of-tools-to-generate-structural-variant-calls-on-whole-genome-sequencing-data <![CDATA[Parliament2: Runs a combination of tools to generate structural variant calls on whole-genome sequencing data]]> Parliament2 identifies structural variants in a given sample relative to a reference genome. These structural variants cover large deletion events that are called as Deletions of a region, Insertions of a sequence into a region, Duplications of a region, Inversions of a region, or Translocations between two regions in the genome.

Parliament2 runs a combination of tools to generate structural variant calls on whole-genome sequencing data. It can run the following callers: Breakdancer, Breakseq2, CNVnator, Delly2, Manta, and Lumpy. Because of synergies in how the programs use computational resources, these are all run in parallel. Parliament2 will produce the outputs of each of the tools for subsequent investigation.

Address of the bookmark: https://github.com/dnanexus/parliament2

]]> Jit https://bioinformaticsonline.com/bookmarks/view/44501/minda-a-tool-for-evaluating-structural-variant-sv-callers Sun, 31 Mar 2024 02:43:50 -0500 https://bioinformaticsonline.com/bookmarks/view/44501/minda-a-tool-for-evaluating-structural-variant-sv-callers <![CDATA[Minda: a tool for evaluating structural variant (SV) callers]]> Minda is a tool for evaluating structural variant (SV) callers that

  • standardizes VCF records for compatibility with both germline and somatic SV callers,
  • benchmarks against a single VCF input file, or
  • benchmarks against an ensemble call set created from multiple VCF input files.

Address of the bookmark: https://github.com/KolmogorovLab/minda

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