gersteinlab / aloftLinks
ALOFT, the Annotation Of Loss-of-Function Transcripts, provides extensive functional annotations to loss-of-function variants in the human genome.
☆19Updated 5 years ago
Alternatives and similar repositories for aloft
Users that are interested in aloft are comparing it to the libraries listed below
Sorting:
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- pathoscore evaluates variant pathogenicity tools and scores.☆21Updated 3 years ago
- A small repo for storing the code for making the files and html for CCRs.☆22Updated 5 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 9 years ago
- ☆18Updated 5 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated 5 months ago
- ☆21Updated 3 months ago
- A method to identify structural variation from sequencing data in target regions☆32Updated 4 years ago
- PopSTR - A Population based microsatellite genotyper☆33Updated last year
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- ☆29Updated 4 years ago
- Population-based detection of structural variation from High-Throughput Sequencing.☆31Updated 2 years ago
- Code associated with 2019 manuscript entitled "Transcript expression-aware annotation improves rare variant discovery and interpretation…☆33Updated 3 years ago
- Expectation-Maximization algorithm for Allele-Specific Expression☆21Updated 2 years ago
- Allele-Specific Quantification of Structural Variations in Cancer Genomes☆18Updated 6 years ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆17Updated last year
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆29Updated last year
- SQUID detects both fusion-gene and non-fusion-gene structural variations from RNA-seq data☆42Updated 3 years ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- BigWig manpulation tools using libBigWig and htslib☆29Updated 11 months ago
- CAVA (Clinical Annotation of VAriants)☆14Updated 6 years ago
- Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer☆21Updated 4 years ago
- Calib clusters barcode tagged paired-end reads based on their barcode and sequence similarity.☆39Updated 2 years ago
- Building the constrained coding regions (CCR) model☆16Updated 6 years ago
- A tool for Read Multi-Mapper Resolution☆23Updated 8 years ago
- gnomAD browser pre-ASHG 2018☆33Updated 4 years ago