SMN1 copy-number and sequence variant analysis from next generation sequencing data
☆23Feb 20, 2026Updated last week
Alternatives and similar repositories for SMAca
Users that are interested in SMAca are comparing it to the libraries listed below
Sorting:
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆51Oct 14, 2023Updated 2 years ago
- Human mitochondrial variants annotation using HmtVar.☆18Oct 16, 2023Updated 2 years ago
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- NiPTUNE. A Python library for NIPT analyses.☆12Nov 22, 2021Updated 4 years ago
- SANEFALCON (Single reAds Nucleosome-basEd FetAL fraCtiON): Calculating the fetal fraction for noninvasive prenatal testing based on genom…☆14Jun 5, 2020Updated 5 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Sep 4, 2024Updated last year
- do some exercise☆14Dec 2, 2025Updated 3 months ago
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆17Mar 10, 2022Updated 3 years ago
- A variant caller for the GBA gene using WGS data☆23Jul 31, 2024Updated last year
- PathOS is a clinical application for filtering, analysing and reporting on NGS variants☆29Mar 30, 2021Updated 4 years ago
- ☆18Mar 14, 2022Updated 3 years ago
- A nextflow pipeline for calling and annotating small germline variants from short DNA reads for WES and WGS data☆13Updated this week
- CNV detection tool for WES data☆12Aug 21, 2024Updated last year
- ☆11Oct 19, 2021Updated 4 years ago
- A webtool for the clinical interpretation of CNVs in rare disease patients☆13Jun 10, 2022Updated 3 years ago
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 5 years ago
- ☆13Jul 17, 2024Updated last year
- These scripts reformat a VCF into a SQLite database, with R☆15Jul 15, 2021Updated 4 years ago
- ☆55Jan 11, 2023Updated 3 years ago
- Basic UPD caller☆12Aug 23, 2021Updated 4 years ago
- dv-trio provides a pipeline to call variants for a trio (father-mother-child) using DeepVariants [1]. Genomic Variant Calling Files (gVCF…☆11Feb 3, 2021Updated 5 years ago
- WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR): Detect fetal trisomies and smaller CNV's in a maternal plasma sample using wh…☆47Apr 24, 2024Updated last year
- ☆28Dec 6, 2024Updated last year
- ☆16Oct 17, 2024Updated last year
- PREFACE -- PREdict FetAl ComponEnt☆15Jan 2, 2026Updated 2 months ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆72Jun 26, 2023Updated 2 years ago
- Fast and scalable variant annotation tool☆30May 1, 2022Updated 3 years ago
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆78Jun 30, 2025Updated 8 months ago
- Short reads aligner for NIPT/CNV☆16Oct 10, 2018Updated 7 years ago
- nPoRe: n-Polymer Realigner for improved pileup-based variant calling☆18Jul 11, 2022Updated 3 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Dec 13, 2019Updated 6 years ago
- Classifier of pathogenic non-coding variants in Mendelian diseases☆10Feb 6, 2020Updated 6 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Mar 10, 2018Updated 7 years ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆39Dec 15, 2025Updated 2 months ago
- Sample Contamination Estimate from VCF☆20Nov 6, 2024Updated last year
- Code associated with 2019 manuscript entitled "Transcript expression-aware annotation improves rare variant discovery and interpretation…☆34May 5, 2022Updated 3 years ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆39Nov 28, 2025Updated 3 months ago
- A simple script to create a customizable html file from an AnnotSV output.☆20May 3, 2024Updated last year
- Divine: Prioritizing Genes for Rare Mendelian Disease in Whole Exome Sequencing Data☆13Apr 18, 2019Updated 6 years ago