Alternatives and similar repositories for omim

Users that are interested in omim are comparing it to the libraries listed below

• Genotek / ClassifyCNV
  ClassifyCNV: a tool for clinical annotation of copy-number variants
  ☆70Updated 2 years ago
• aeeckhou / shallowHRD
  This method uses shallow Whole Genome Sequencing (sWGS) and the segmentation of a genomic profile to assess the Homologous Recombination …
  ☆36Updated 4 months ago
• babelomics / SMAca
  SMN1 copy-number and sequence variant analysis from next generation sequencing data
  ☆23Updated 2 months ago
• molgenis / NIPTeR
  R Package for Non Invasive Prenatal Testing (NIPT) analysis
  ☆46Updated 6 years ago
• RahmanTeam / DECoN
  ☆54Updated 3 years ago
• BGI-flexlab / SOAPTyping
  HLA typing for Sanger Based Test
  ☆19Updated 2 years ago
• deepomicslab / SpecHLA
  SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …
  ☆54Updated 3 months ago
• WGLab / Phen2Gene
  Phenotype driven gene prioritization for HPO
  ☆51Updated 4 years ago
• OSU-SRLab / MANTIS
  Microsatellite Analysis for Normal-Tumor InStability
  ☆75Updated 3 years ago
• KCCG / ClinSV
  Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
  ☆75Updated last year
• bcgsc / HLAminer
  ⛏ HLA predictions from NGS shotgun data
  ☆55Updated 7 months ago
• sfu-compbio / sinvict
  SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA
  ☆27Updated 5 years ago
• PubuduSaneth / cnvScan
  CNV screening and annotation tool
  ☆25Updated 9 years ago
• bjtrost / TCAG-WGS-CNV-workflow
  Scripts involved in our workflow for detecting CNVs from WGS data using read depth-based methods
  ☆46Updated 3 years ago
• dieterich-lab / JACUSA2
  New version of JACUSA -> 2.0
  ☆30Updated 2 months ago
• dieterich-lab / DCC
  DCC uses output from the STAR read mapper to systematically detect back-splice junctions in next-generation sequencing data. DCC applies …
  ☆38Updated 3 years ago
• Sentieon / sentieon-scripts
  Helper scripts for biological data processing from Sentieon
  ☆64Updated last week
• cphgeno / CNVbench
  Benchmarking of CNV calling tools
  ☆18Updated 6 years ago
• ccagc / QDNAseq
  QDNAseq package for Bioconductor
  ☆54Updated last year
• Clinical-Genomics / BALSAMIC
  Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer
  ☆57Updated this week
• VUmcCGP / wisecondor
  WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR): Detect fetal trisomies and smaller CNV's in a maternal plasma sample using wh…
  ☆47Updated last year
• SyntekabioTools / HLAscan
  ☆26Updated 6 years ago
• OpenGene / ctdna-pipeline
  A simplified pipeline for ctDNA sequencing data analysis
  ☆37Updated 8 years ago
• JiguangPeng / autopvs1
  An automatic classification tool for PVS1 interpretation of null variants
  ☆43Updated last year
• xjtu-omics / msisensor-pro
  Microsatellite Instability (MSI) detection using high-throughput sequencing data.
  ☆115Updated 10 months ago
• ctsa / svtools
  Tools for processing and analyzing structural variants.
  ☆34Updated 10 years ago
• Illumina / Pisces
  Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.
  ☆99Updated 3 years ago
• molgenis / capice
  ☆27Updated last year
• zd1 / telseq
  A software for calculating telomere length
  ☆73Updated 7 years ago
• pughlab / ConsensusCruncher
  ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…
  ☆21Updated 3 years ago