HAShihab / fathmm-MKLLinks
Predict the functional consequences of both coding and non-coding single nucleotide variants (SNVs)
☆20Updated 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:
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- Opossum is a tool to pre-process RNA-seq reads prior to variant calling.☆28Updated 7 years ago
- utilities for working with IGV: opening files remotely in either desktop IGV or a web viewer (igv.js), creating screenshots, etc.☆49Updated 6 years ago
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated 2 years ago
- Code associated with 2019 manuscript entitled "Transcript expression-aware annotation improves rare variant discovery and interpretation…☆33Updated 3 years ago
- ☆29Updated 4 years ago
- Keep Me Around: Intron Retention Detection☆29Updated 6 years ago
- Exon-exon splice junctions across SRA☆42Updated 4 years ago
- conda recipes for genomic data☆85Updated 4 years ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆38Updated 5 years ago
- An awk-like VCF parser☆56Updated last year
- High-definition reconstruction of clonal composition from next-generation sequencing data☆40Updated 9 years ago
- create, manage, and upload track hubs for use in the UCSC genome browser☆54Updated last year
- Tools for next-generation sequencing analysis☆88Updated 6 years ago
- Chanjo provides a better way to analyze coverage data in clinical sequencing.☆51Updated 8 months ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- fast webservices based query tool for large sets of genomic features☆25Updated 3 months ago
- gnomAD browser pre-ASHG 2018☆33Updated 4 years ago
- (DEPRECATED) epic: diffuse domain ChIP-Seq caller based on SICER☆31Updated 6 years ago
- Fork of https://code.google.com/p/ngs-analysis☆18Updated 11 years ago
- (WIP) best-practices workflow for rare disease☆60Updated last year
- create a gemini-compatible database from a VCF☆56Updated 4 years ago
- Generic human DNA variant annotation pipeline☆58Updated last year
- prioritize effects of variant annotations from VEP, SnpEff, et al.☆34Updated 8 months ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 9 years ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year
- ☆26Updated 2 months ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- ☆38Updated 6 months ago