Alternatives and similar repositories for megSAP

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

• imgag / ClinCNV
  Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data
  ☆85Updated 4 months ago
• secastel / phaser
  phasing and Allele Specific Expression from RNA-seq
  ☆115Updated 10 months ago
• Illumina / ExpansionHunterDenovo
  A suite of tools for detecting expansions of short tandem repeats
  ☆80Updated last year
• sbslee / pypgx
  A Python package for pharmacogenomics (PGx) research
  ☆73Updated 3 months ago
• genome-in-a-bottle / genome-stratifications
  Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium…
  ☆79Updated 2 years ago
• broadinstitute / gatk-sv
  A structural variation pipeline for short-read sequencing
  ☆188Updated last week
• KCCG / ClinSV
  Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
  ☆69Updated 9 months ago
• gatk-workflows / seq-format-conversion
  Workflows for converting between sequence data formats
  ☆38Updated 3 years ago
• parklab / NGSCheckMate
  Software program for checking sample matching for NGS data
  ☆132Updated 11 months ago
• Griffan / VerifyBamID
  VerifyBamID2: A robust tool for DNA contamination estimation from sequence reads using ancestry-agnostic method.
  ☆97Updated last year
• CenterForMedicalGeneticsGhent / WisecondorX
  WisecondorX — An evolved WISECONDOR
  ☆97Updated 8 months ago
• GooglingTheCancerGenome / sv-callers
  Snakemake-based workflow for detecting structural variants in genomic data
  ☆80Updated 3 months ago
• Sentieon / sentieon-scripts
  Helper scripts for biological data processing from Sentieon
  ☆64Updated 7 months ago
• kircherlab / CADD-scripts
  CADD scripts release for offline scoring. For more information about CADD, please visit our website
  ☆81Updated last week
• SBIMB / StellarPGx
  Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.
  ☆34Updated last week
• freeseek / score
  Tools to work with GWAS-VCF summary statistics files
  ☆119Updated 8 months ago
• parklab / xTea
  Comprehensive TE insertion identification with WGS/WES data from multiple sequencing technics
  ☆111Updated last month
• geocarvalho / sv-cnv-studies
  Relevant papers for CNV and SV approaches
  ☆94Updated 7 months ago
• gymreklab / GangSTR
  A tool for profiling long STRs from short reads
  ☆97Updated 4 years ago
• KalinNonchev / gnomAD_DB
  This package scales the huge gnomAD files to a SQLite database, which is easy and fast to query. It extracts from a gnomAD vcf the minor …
  ☆45Updated last week
• genome-in-a-bottle / giab_latest_release
  This repository contains information about latest release from Genome in a Bottle project
  ☆74Updated 5 years ago
• gencorefacility / variant-calling-pipeline-gatk4
  Variant Calling Pipeline Using GATK4 and Nextflow
  ☆55Updated 2 years ago
• Clinical-Genomics / MIP
  Mutation Identification Pipeline. Read the latest documentation:
  ☆44Updated last year
• ding-lab / CharGer
  Characterization of Germline variants
  ☆98Updated 3 years ago
• BoevaLab / FREEC
  Control-FREEC: Copy number and genotype annotation in whole genome and whole exome sequencing data
  ☆161Updated 9 months ago
• nf-core / smrnaseq
  A small-RNA sequencing analysis pipeline
  ☆85Updated this week
• oncokb / oncokb-annotator
  Annotates variants in MAF with OncoKB annotation.
  ☆130Updated 3 weeks ago
• Genotek / ClassifyCNV
  ClassifyCNV: a tool for clinical annotation of copy-number variants
  ☆65Updated last year
• gagneurlab / drop
  Pipeline to find aberrant events in RNA-Seq data, useful for diagnosis of rare disorders
  ☆146Updated this week
• PubuduSaneth / cnvScan
  CNV screening and annotation tool
  ☆25Updated 8 years ago