Alternatives and similar repositories for omim

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

• RahmanTeam / DECoN
  ☆53Updated 2 years ago
• Genotek / ClassifyCNV
  ClassifyCNV: a tool for clinical annotation of copy-number variants
  ☆66Updated 2 years ago
• babelomics / SMAca
  SMN1 copy-number and sequence variant analysis from next generation sequencing data
  ☆23Updated 2 years ago
• molgenis / NIPTeR
  R Package for Non Invasive Prenatal Testing (NIPT) analysis
  ☆41Updated 5 years ago
• bcgsc / HLAminer
  ⛏ HLA predictions from NGS shotgun data
  ☆54Updated 3 months ago
• Sentieon / sentieon-scripts
  Helper scripts for biological data processing from Sentieon
  ☆64Updated last week
• sfu-compbio / sinvict
  SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA
  ☆27Updated 4 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, …
  ☆50Updated 2 weeks ago
• KCCG / ClinSV
  Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
  ☆71Updated last year
• nccl-jmli / VarBen
  ☆36Updated 4 years ago
• ccagc / QDNAseq
  QDNAseq package for Bioconductor
  ☆50Updated last year
• ImperialCardioGenetics / UTRannotator
  VEP Plugin to annotate high-impact five prime UTR variants
  ☆27Updated last year
• nspies / svviz2
  for visual evaluation of read support for structural variation
  ☆54Updated last year
• ctsa / svtools
  Tools for processing and analyzing structural variants.
  ☆33Updated 9 years ago
• SyntekabioTools / HLAscan
  ☆25Updated 5 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 2 years ago
• ygidtu / trackplot
  trackplot is a tool for visualizing various next-generation sequencing (NGS) data, including DNA-seq, RNA-seq, single-cell RNA-seq and fu…
  ☆97Updated 3 months ago
• OSU-SRLab / MANTIS
  Microsatellite Analysis for Normal-Tumor InStability
  ☆73Updated 3 years ago
• niu-lab / msisensor-ct
  Microsatellite instability (MSI) detection for cfDNA samples.
  ☆19Updated 4 years ago
• Illumina / Pisces
  Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.
  ☆98Updated 3 years ago
• vplagnol / ExomeDepth
  ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.
  ☆73Updated 2 months ago
• FoundationMedicineInc / SGZ
  ☆42Updated last year
• pinellolab / AmpUMI
  Toolkit for the design and analysis of amplicon sequencing experiments utilizing unique molecular identifiers (UMIs)
  ☆42Updated last week
• BimberLab / DISCVRSeq
  A collection of command line tools for working with sequencing data
  ☆51Updated 2 weeks ago
• molgenis / capice
  ☆25Updated 9 months ago
• Illumina / ExpansionHunterDenovo
  A suite of tools for detecting expansions of short tandem repeats
  ☆82Updated 2 years ago
• PapenfussLab / sv_benchmark
  Comprehensive benchmark of structural variant callers
  ☆46Updated 4 years ago
• SciLifeLab / TIDDIT
  TIDDIT - structural variant calling
  ☆76Updated 4 months ago
• VUmcCGP / wisecondor
  WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR): Detect fetal trisomies and smaller CNV's in a maternal plasma sample using wh…
  ☆46Updated last year
• dieterich-lab / DCC
  DCC uses output from the STAR read mapper to systematically detect back-splice junctions in next-generation sequencing data. DCC applies …
  ☆37Updated 3 years ago