CenterForMedicalGeneticsGhent / PREFACE
PREFACE -- PREdict FetAl ComponEnt
☆14Updated 3 years ago
Related projects: ⓘ
- SANEFALCON (Single reAds Nucleosome-basEd FetAL fraCtiON): Calculating the fetal fraction for noninvasive prenatal testing based on genom…☆15Updated 4 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆21Updated last year
- ☆44Updated 4 years ago
- Tools for processing and analyzing structural variants.☆32Updated 9 years ago
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆33Updated last month
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 3 years ago
- ☆15Updated 9 months ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated last year
- Full-spectrum copy number variation detection by high-throughput DNA sequencing☆37Updated 3 years ago
- QDNAseq package for Bioconductor☆45Updated last month
- Microsatellite instability (MSI) detection for cfDNA samples.☆17Updated 3 years ago
- QDNAseq bin annotation for hg38☆13Updated 2 years ago
- ☆51Updated 5 years ago
- TEspeX - pipeline for Transposable Elements expression quantification☆19Updated last year
- microRNA PREdiction From small RNA-seq data☆29Updated 6 years ago
- Python scripts for matching output of Pacific Biosciences IsoSeq RNA-seq pipeline to an annotation file.☆24Updated 8 years ago
- Advanced plotting functions for CNV data generated by CNV-Seq and Control Freec☆13Updated 4 years ago
- heuristics to merge structural variant calls in VCF format.☆35Updated 7 years ago
- ☆31Updated last year
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 6 years ago
- An efficient Variant-Caller to highlight low allele-frequency tumor mutations in a clinical practice☆11Updated last year
- Benchmarking of CNV calling tools☆17Updated 5 years ago
- Fork from https://bitbucket.org/mcgranahanlab/lohhla/src, modified for MSKCC needs☆28Updated last year
- Pipeline for structural variation detection in cohorts☆45Updated 3 years ago
- A simple script to create a customizable html file from an AnnotSV output.☆18Updated 4 months ago
- This repo is be archived, these workflows are still housed housed in the GATK repository under the scripts directory. The workflows are a…☆20Updated 4 years ago
- ☆21Updated 3 months ago
- Structural variant merging tool☆44Updated 3 weeks ago
- cnv-seq with custom bugfix☆11Updated 11 years ago
- allele specific DNA methylation haplotype region☆13Updated 11 months ago