HAShihab / fathmm-MKLView external linksLinks
Predict the functional consequences of both coding and non-coding single nucleotide variants (SNVs)
☆20Mar 18, 2021Updated 4 years ago
Alternatives and similar repositories for fathmm-MKL
Users that are interested in fathmm-MKL are comparing it to the libraries listed below
Sorting:
- The Functional Analysis through Hidden Markov Models Software and Server☆14Nov 6, 2014Updated 11 years ago
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 5 years ago
- R package for haplotype phasing using single-cell RNA-seq data☆13Aug 22, 2017Updated 8 years ago
- HGVS variant description extractor☆11Sep 14, 2020Updated 5 years ago
- The Loss-of-Function ToolKit (LoFTK) allows efficient and automated prediction of LoF variants from both genotyped and sequenced genomes,…☆10Jul 30, 2025Updated 6 months ago
- DEPRECATED: Store and query public TCGA data☆11Sep 15, 2016Updated 9 years ago
- Browser for ExAC consortium data☆12Oct 23, 2017Updated 8 years ago
- ☆14Aug 30, 2025Updated 5 months ago
- Ensembl tools☆34Nov 3, 2025Updated 3 months ago
- A library for compressing, encrypting, and querying alignment data.☆15Jul 6, 2016Updated 9 years ago
- Mutation rate analysis of autosomal loci☆15Jun 25, 2020Updated 5 years ago
- Identify Organisms from a Stream of DNA Sequences☆13Mar 3, 2016Updated 9 years ago
- ☆18Jul 9, 2018Updated 7 years ago
- A client for the Ensembl REST API written in the Python programming language☆28Dec 8, 2025Updated 2 months ago
- Seave is a web platform that enables genetic variants to be easily filtered and annotated with in silico pathogenicity prediction scores …☆16Aug 9, 2018Updated 7 years ago
- VPOT - Variant Prioritisation Ordering Tool. VPOT is a Python tool written to allow prioritisation of variants in ANNOVAR annotated VCF f…☆19Oct 27, 2021Updated 4 years ago
- ☆26Feb 15, 2018Updated 8 years ago
- SQUID detects both fusion-gene and non-fusion-gene structural variations from RNA-seq data☆42Apr 7, 2022Updated 3 years ago
- ☆19May 27, 2025Updated 8 months ago
- Estimate genetic correlation using predicted expression☆24Mar 8, 2018Updated 7 years ago
- Aligner for sequencing data☆18Feb 13, 2018Updated 8 years ago
- CADD scripts release for offline scoring. For more information about CADD, please visit our website☆90Oct 30, 2025Updated 3 months ago
- ☆16Dec 19, 2016Updated 9 years ago
- Using k-mers to call HLA alleles in RNA sequencing data☆23Jul 26, 2018Updated 7 years ago
- A command line tool that uses a Boolean calculus of calendars for computing availability (currently supports Google Calendar API)☆25Nov 3, 2021Updated 4 years ago
- This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file…☆131Feb 13, 2020Updated 6 years ago
- BAGEL software☆28Jan 30, 2024Updated 2 years ago
- ☆23Jan 17, 2025Updated last year
- ☆20Oct 29, 2025Updated 3 months ago
- Create QC and summary reports for Alevin output☆31Jan 27, 2026Updated 2 weeks ago
- Wrapper for RTG's vcfeval; DEPRECATED!☆21Apr 8, 2016Updated 9 years ago
- a tool for predicting mitochondrial DNA deletions using soft-clipping☆23Feb 3, 2022Updated 4 years ago
- Zhang, et al, Nature Immunology, 2019. Use single-cell transcriptomics and proteomics to study autoimmune diseases.☆20Mar 11, 2025Updated 11 months ago
- Benchmarking toolkit for variant calling☆48Oct 13, 2020Updated 5 years ago
- ☆26Oct 15, 2020Updated 5 years ago
- R Interface to the NCBI SRA metadata☆23Nov 19, 2018Updated 7 years ago
- Tools for early stage alignment file processing☆95Mar 12, 2019Updated 6 years ago
- pathoscore evaluates variant pathogenicity tools and scores.☆22Mar 25, 2022Updated 3 years ago
- Simple pure Python SAM parser and objects for working with SAM records☆64Jun 21, 2022Updated 3 years ago