jamesdiao / ACMG-penetranceLinks
Penetrance estimates; frequency and distribution of secondary findings for the ACMG-59 gene panel
☆1Updated 7 years ago
Alternatives and similar repositories for ACMG-penetrance
Users that are interested in ACMG-penetrance are comparing it to the libraries listed below
Sorting:
- A curated list of awesome clonality and tumor heterogeneity resources☆15Updated 6 years ago
- 📊Evaluating, filtering, comparing, and visualising VCF☆28Updated 2 years ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 4 months ago
- DRAGEN Tumor/Normal workflow post-processing☆22Updated last year
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 6 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- A webtool for the clinical interpretation of CNVs in rare disease patients☆12Updated 3 years ago
- CAVA (Clinical Annotation of VAriants)☆14Updated 6 years ago
- SQUID detects both fusion-gene and non-fusion-gene structural variations from RNA-seq data☆43Updated 3 years ago
- Automated human exome/genome variants detection from FASTQ files☆22Updated 3 years ago
- a Shiny/R application to view and annotate copy number variations☆28Updated 2 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆23Updated 5 years ago
- Allele frequency filter app☆14Updated 3 years ago
- Expectation-Maximization algorithm for Allele-Specific Expression☆21Updated 2 years ago
- iAnnotateSV is a Python library and command-line software toolkit to annotate and visualize structural variants detected from Next Genera…☆16Updated 3 months ago
- ☆15Updated 7 years ago
- ☆14Updated 2 years ago
- ALOFT, the Annotation Of Loss-of-Function Transcripts, provides extensive functional annotations to loss-of-function variants in the hum…☆19Updated 5 years ago
- Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer☆21Updated 4 years ago
- Filter and prioritize fusion calls☆20Updated 9 months ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated 2 years ago
- ☆11Updated 7 years ago
- Accucopy is a computational method that infers Allele-Specific Copy Number alterations from low-coverage low-purity tumor sequencing data…☆17Updated last year
- Multi-sample cancer phylogeny reconstruction☆35Updated 7 years ago
- ☆15Updated 4 years ago
- gnomAD browser pre-ASHG 2018☆33Updated 4 years ago
- Allele frequency filtering for Mendelian variant discovery☆18Updated 8 years ago
- A pipeline for the identification of Compound Heterozygous Variants☆9Updated 2 years ago
- ☆21Updated 3 months ago
- Haplotype-based somatic genome simulator☆10Updated 8 years ago