Alternatives and similar repositories for SpliceAI-lookup:

Users that are interested in SpliceAI-lookup are comparing it to the libraries listed below

• GeneDx / scramble
  ☆39Updated 8 months ago
• Illumina / Polaris
  Data and information about the Polaris study
  ☆53Updated 5 years ago
• Clinical-Genomics / stranger
  Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat
  ☆31Updated last month
• zeeev / mergeSVcallers
  heuristics to merge structural variant calls in VCF format.
  ☆35Updated 8 years ago
• ryanlayer / stix
  Structural Variant Index
  ☆70Updated last month
• RahmanTeam / DECoN
  ☆51Updated 2 years ago
• fredsanto / coverageMaster
  ☆12Updated 6 months ago
• Illumina / RepeatCatalogs
  ☆20Updated 3 years ago
• Genotek / ClassifyCNV
  ClassifyCNV: a tool for clinical annotation of copy-number variants
  ☆60Updated last year
• fritzsedlazeck / parliament2
  Runs a combination of tools to generate structural variant calls on whole-genome sequencing data
  ☆46Updated 4 years ago
• KCCG / ClinSV
  Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
  ☆66Updated 4 months ago
• kcleal / dysgu
  Toolkit for calling structural variants using short or long reads
  ☆100Updated this week
• ctsa / svtools
  Tools for processing and analyzing structural variants.
  ☆32Updated 9 years ago
• fakedrtom / SVAFotate
  ☆39Updated 4 months ago
• PubuduSaneth / cnvScan
  CNV screening and annotation tool
  ☆24Updated 8 years ago
• naumanjaved / fingerprint_maps
  Create "haplotype maps" of variants in order to use with Picardtools Crosscheck_Files utility, which allows for robust genotyping of func…
  ☆26Updated last year
• Illumina / witty.er
  What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.
  ☆30Updated last year
• svviz / svviz
  Read visualizer for structural variants
  ☆81Updated 6 years ago
• GooglingTheCancerGenome / sv-callers
  Snakemake-based workflow for detecting structural variants in genomic data
  ☆79Updated 11 months ago
• tk2 / RetroSeq
  RetroSeq is a bioinformatics tool that searches for mobile element insertions from aligned reads in a BAM file and a library of reference…
  ☆65Updated 2 years ago
• babelomics / SMAca
  SMN1 copy-number and sequence variant analysis from next generation sequencing data
  ☆22Updated last year
• SciLifeLab / TIDDIT
  TIDDIT - structural variant calling
  ☆73Updated this week
• mhguo1 / TRAPD
  Burden testing against public controls
  ☆50Updated 10 months ago
• mquinodo / AutoMap
  Tool to find regions of homozygosity (ROHs) from sequencing data.
  ☆31Updated 7 months ago
• monarch-initiative / SvAnna
  Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing
  ☆35Updated 6 months ago
• nygenome / Conpair
  Concordance and contamination estimator for tumor–normal pairs
  ☆56Updated 2 months ago
• mchowdh200 / samplot-ml
  ☆22Updated 3 years ago
• bioinform / metasv
  MetaSV: An accurate and integrative structural-variant caller for next generation sequencing
  ☆55Updated 7 years ago
• genome-in-a-bottle / giab_latest_release
  This repository contains information about latest release from Genome in a Bottle project
  ☆73Updated 5 years ago
• LBGC-CFB / SPiP
  Splicing Prediction Pipeline
  ☆13Updated last year