VUmcCGP / sanefalcon
SANEFALCON (Single reAds Nucleosome-basEd FetAL fraCtiON): Calculating the fetal fraction for noninvasive prenatal testing based on genome-wide nucleosome profiles.
☆14Updated 4 years ago
Alternatives and similar repositories for sanefalcon:
Users that are interested in sanefalcon are comparing it to the libraries listed below
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆22Updated last year
- A new tool to infer sex from massively parallel sequencing data.☆16Updated 8 months ago
- PREFACE -- PREdict FetAl ComponEnt☆13Updated 3 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆27Updated 7 months ago
- Plot CNV data with a genome viewer in R☆15Updated 7 years ago
- ☆14Updated last year
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆27Updated 8 months ago
- Tools for processing and analyzing structural variants.☆32Updated 9 years ago
- A tool for sample swap identification in high throughput sequencing studies☆10Updated last week
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- a tool for predicting mitochondrial DNA deletions using soft-clipping☆22Updated 3 years ago
- A variant caller for the GBA gene using WGS data☆21Updated 7 months ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Microsatellite instability (MSI) detection for cfDNA samples.☆19Updated 4 years ago
- Irons out wrinkles in noisy coverage data using robust PCA☆13Updated this week
- Reproducibility workflow for Gigante et al., 2018: Using long-read sequencing to detect imprinted DNA methylation☆23Updated 5 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆21Updated 4 years ago
- ☆51Updated 5 years ago
- Streamlined duo/trio analysis and pedigree haplotyping: from VCF to interactive HTML☆15Updated 4 months ago
- ☆18Updated 2 years ago
- ☆33Updated last year
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 6 years ago
- cnv-seq with custom bugfix☆10Updated 11 years ago
- A Mendelian approach to variant effect prediction built in keras☆16Updated 4 months ago
- heuristics to merge structural variant calls in VCF format.☆36Updated 8 years ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 2 years ago
- smCounter: a versatile UMI-aware variant caller to detect both somatic and germline SNVs and indels. Published in article "Detecting very…☆20Updated 5 years ago
- Location of public benchmarking; primarily final results☆18Updated 2 weeks ago
- ☆21Updated 2 months ago