sirselim / diagnostics_exome_reportingView external linksLinks
Pipeline to filter whole exome vcf files and generate a report document for clinical diagnostics.
☆14Nov 11, 2019Updated 6 years ago
Alternatives and similar repositories for diagnostics_exome_reporting
Users that are interested in diagnostics_exome_reporting are comparing it to the libraries listed below
Sorting:
- NiPTUNE. A Python library for NIPT analyses.☆12Nov 22, 2021Updated 4 years ago
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆17Mar 10, 2022Updated 3 years ago
- myVCF: a web-based platform for target and exome mutations data management☆20Apr 13, 2021Updated 4 years ago
- ☆22Sep 17, 2025Updated 4 months ago
- Immune Cell Gene Signatures for Profiling the Microenvironment of Solid Tumours☆28Jan 9, 2021Updated 5 years ago
- Bayesian-based fetal genotyping using maternal cell-free DNA and parental sequencing data.☆14Jun 5, 2019Updated 6 years ago
- The Exome Coverage and Identification Report displays the coverage of every target region in your capture design. It also displays regio…☆14Apr 22, 2015Updated 10 years ago
- amplicon/smMIP mapping and analysis pipeline☆11Dec 8, 2022Updated 3 years ago
- cnv-seq with custom bugfix☆10Mar 23, 2013Updated 12 years ago
- Detecting cancer subtypes with machine learning.☆10Feb 5, 2020Updated 6 years ago
- An integrated web-based resource for mapping functional networks of long or circular forms of non-coding RNAs☆10Jul 13, 2019Updated 6 years ago
- A collection of R functions to aid in host-pathogen genomic research☆12May 8, 2024Updated last year
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆46Nov 5, 2019Updated 6 years ago
- Curated list of resources for variant prioritization☆12Nov 18, 2025Updated 2 months ago
- tugHall: a simulator of cancer cell evolution based on the hallmarks of cancer, linked to the mutational states of tumor-related genes. T…☆13Dec 11, 2023Updated 2 years ago
- Exome/Capture/RNASeq Pipeline Implementation using snakemake☆47Mar 26, 2018Updated 7 years ago
- Software to process, statistically analyse and visualise deep mutational scanning data☆14Oct 29, 2025Updated 3 months ago
- ☆13Feb 14, 2023Updated 3 years ago
- de Bruijn graph cOrrectiOn from graph aLignment☆11Jul 20, 2020Updated 5 years ago
- ☆11Apr 10, 2016Updated 9 years ago
- cfDNA Sequencing Pipeline with UMI☆11Dec 8, 2025Updated 2 months ago
- CNV calling algorithm for detection of homozygous and hemizygous deletions from whole exome sequencing data☆12Nov 9, 2025Updated 3 months ago
- Nextflow implementation of the smoove workflow and other tools for SV calling and QC☆12Nov 12, 2020Updated 5 years ago
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 5 years ago
- ☆27Dec 5, 2024Updated last year
- Tutorial on building a computing cluster for bioinformatics☆88Nov 28, 2023Updated 2 years ago
- 🍶 Genome assembly with short sequence reads☆25Jan 21, 2024Updated 2 years ago
- viGEN - A bioinformatics pipeline for the exploration of viral RNA in human NGS data☆28Oct 8, 2024Updated last year
- Validating glioblastoma immune cell immunohistochemsitry using computational deconvolution of TCGA tumors☆14Jul 10, 2019Updated 6 years ago
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- ☆15Jun 2, 2021Updated 4 years ago
- Pipeline to call somatic cancer neoantigens from mutations in patient tumor DNA☆14Feb 16, 2023Updated 2 years ago
- An integrated analysis toolkit and pipeline for Next-Generation Sequencing (NGS) panel sequencing data☆14Aug 16, 2018Updated 7 years ago
- S3norm ver2 + IDEAS epigenetic state / master peak list☆12Sep 22, 2023Updated 2 years ago
- ☆15Oct 10, 2023Updated 2 years ago
- Debarcer: A package for De-Barcoding and Error Correction of sequencing data containing molecular barcodes☆15Apr 28, 2021Updated 4 years ago
- MEM mapper prototype☆13Nov 28, 2020Updated 5 years ago
- This WDL pipeline implements data pre-processing and initial variant calling according to the GATK Best Practices for germline SNP and In…☆55Oct 29, 2020Updated 5 years ago
- functions and algorithms for single cell RNA-seq analyses☆12Jan 26, 2021Updated 5 years ago