mccoy-lab / LD-PGTALinks
Linkage disequlibrium-informed PGT-A (LD-PGTA). A package for detecting genotypic signatures of aneuploidy from extremely low-coverage sequence data.
☆18Updated 3 years ago
Alternatives and similar repositories for LD-PGTA
Users that are interested in LD-PGTA are comparing it to the libraries listed below
Sorting:
- Tools for processing and analyzing structural variants.☆34Updated 10 years ago
- Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies☆18Updated 2 years ago
- ☆51Updated 6 years ago
- Python scripts for matching output of Pacific Biosciences IsoSeq RNA-seq pipeline to an annotation file.☆23Updated 10 years ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆39Updated last month
- This is the official development repository for BaseVar, which call variants for large-scale ultra low-pass (<1.0x) WGS data, especially …☆27Updated 5 months ago
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆21Updated 5 years ago
- ☆83Updated 10 months ago
- Structural variant VCF annotation, duplicate removal and comparison☆34Updated 2 months ago
- Structural variant merging tool☆57Updated last year
- A simple script to create a customizable html file from an AnnotSV output.☆19Updated last year
- Copy number estimation and variant calling for duplicated genes using WGS.☆31Updated 3 months ago
- Identify and annotate TE-mediated insertions in long-read sequence data☆46Updated 6 months ago
- ☆38Updated 2 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated last month
- Variant annotation and merging pipeline☆41Updated 5 months ago
- A new tool to infer sex from massively parallel sequencing data.☆17Updated 7 months ago
- A simple tool to calculate reads number and total base count in FASTQ file☆21Updated 6 years ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆48Updated 5 years ago
- Pipeline for structural variation detection in cohorts☆52Updated 4 years ago
- heuristics to merge structural variant calls in VCF format.☆38Updated 9 years ago
- Microsatellite instability (MSI) detection for cfDNA samples.☆20Updated 4 years ago
- Structural variant caller☆55Updated 4 years ago
- Working space for the GIAB TR benchmarking project☆23Updated last year
- An accurate repeat detection from Nanopore data using deep learning and image techniques☆24Updated 2 years ago
- ☆44Updated last year
- ☆54Updated 2 years ago
- This is a pipeline for variant annotation in the diagnosis of rare genetic disorders. It relies on open source data and has instructions …☆18Updated 2 years ago
- Updated and optimized fork of BSMAP☆23Updated 5 years ago
- Error correction of ONT transcript reads☆58Updated 2 years ago