nshomron / hoobariLinks
Bayesian-based fetal genotyping using maternal cell-free DNA and parental sequencing data.
☆14Updated 6 years ago
Alternatives and similar repositories for hoobari
Users that are interested in hoobari are comparing it to the libraries listed below
Sorting:
- NiPTUNE. A Python library for NIPT analyses.☆12Updated 4 years ago
- ThermoFisher Ion Torrent plugin to detect fetal trisomies and estimate fetal fraction☆17Updated 7 years ago
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆43Updated 6 years ago
- Short reads aligner for NIPT/CNV☆16Updated 7 years ago
- This is the official development repository for BaseVar, which call variants for large-scale ultra low-pass (<1.0x) WGS data, especially …☆27Updated 4 months ago
- Code and custom scripts relevant to gnomAD-SV (Collins*, Brand*, et al., 2020)☆37Updated 5 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated this week
- Linkage disequlibrium-informed PGT-A (LD-PGTA). A package for detecting genotypic signatures of aneuploidy from extremely low-coverage se…☆18Updated 3 years ago
- Tools for processing and analyzing structural variants.☆33Updated 10 years ago
- Debarcer: A package for De-Barcoding and Error Correction of sequencing data containing molecular barcodes☆15Updated 4 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 5 years ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 3 years ago
- PGxPOP☆17Updated 2 years ago
- Computes various SV statistics☆14Updated 2 years ago
- CN-Learn☆30Updated 5 years ago
- visualize CNV data from targeted capture based sequencing data☆34Updated 4 years ago
- Python scripts for matching output of Pacific Biosciences IsoSeq RNA-seq pipeline to an annotation file.☆23Updated 10 years ago
- Scripts involved in our workflow for detecting CNVs from WGS data using read depth-based methods☆46Updated 3 years ago
- Streamlined duo/trio analysis and pedigree haplotyping: from VCF to interactive HTML☆15Updated last year
- ☆18Updated 3 years ago
- VCF files of SVs using long-read sequencing (LRS).☆22Updated 3 years ago
- SANEFALCON (Single reAds Nucleosome-basEd FetAL fraCtiON): Calculating the fetal fraction for noninvasive prenatal testing based on genom…☆14Updated 5 years ago
- Framework to benchmark algorithms when detecting germline copy number variations (CNVs) from NGS data☆14Updated 11 months ago
- Burden testing against public controls☆50Updated last year
- A tool for sample swap identification in high throughput sequencing studies☆10Updated 8 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…☆22Updated 5 years ago
- Hi-C Interaction Frequency Inference (HIFI): High-resolution estimation of DNA-DNA interaction frequency from Hi-C data☆24Updated 3 years ago
- TIDDIT - structural variant calling☆77Updated 7 months ago
- Liftover VCF files☆18Updated 8 years ago
- This method uses shallow Whole Genome Sequencing (sWGS) and the segmentation of a genomic profile to assess the Homologous Recombination …☆34Updated 2 months ago