Pinned Repositories
bio-virtuoso
A Doker container for a wrapper server of the Virtuoso database engine and data-containers bioinfomatics databases
bioruby-dbsnp
Utilities to handle dbSNP bitfield information
bioruby-genomic-interval
a BioRuby plugin: handling genomic interavals and overlaps
bioruby-ucsc-api
Ruby UCSC API: An API for the UCSC Genome Database
docker-ucsc-blat
Dockerfiles for UCSC BLAT servers with hg19 and hg38 reference genomes
hgvd2annovar
Convert a HGVD table file to an ANNOVAR generic DB file
ngsdat2
NGS Data Analysis Textbook Version 2 (Disease Genome Analysis)
RareDiseaseInformatics
https://misshie.github.io/rdinfo2020/
Workflows
Pwrake for bioinfomatics workflows using GATK and Dindel
misshie's Repositories
misshie/ngsdat2
NGS Data Analysis Textbook Version 2 (Disease Genome Analysis)
misshie/bioruby-ucsc-api
Ruby UCSC API: An API for the UCSC Genome Database
misshie/Workflows
Pwrake for bioinfomatics workflows using GATK and Dindel
misshie/bioruby-genomic-interval
a BioRuby plugin: handling genomic interavals and overlaps
misshie/hgvd2annovar
Convert a HGVD table file to an ANNOVAR generic DB file
misshie/RareDiseaseInformatics
https://misshie.github.io/rdinfo2020/
misshie/bio-virtuoso
A Doker container for a wrapper server of the Virtuoso database engine and data-containers bioinfomatics databases
misshie/bioruby-dbsnp
Utilities to handle dbSNP bitfield information
misshie/docker-ucsc-blat
Dockerfiles for UCSC BLAT servers with hg19 and hg38 reference genomes
misshie/UCSC2VCF
Convert UCSC dbSNP to VCF files
misshie/bioinformatics
Tools for bioinformatics
misshie/UCSCBin
Utilities for UCSC Bioinformatics Genome Browser ( http://genome.ucsc.edu ) including calculation of a BIN index from a genomic interval to speed-up SQL queries, and conversion between 1-based full-closed (for humans) and 0-based half-open (for machienes) intervals
misshie/avsummary
GATK & ANNOVAR workflow tool
misshie/bioruby-rakehelper
A BioRuby plugin: helper methods simplifying rakefiles
misshie/biogems.info
Tools for keeping track of biogems through http://biogems.info/
misshie/bioruby-samtools
Porting of samtools-ruby to BioRuby. Binder of samtools for ruby, on the top of FFI -from original project-
misshie/HPViewer
misshie/jshg2024
Short-read sequencing-based SNV/indel analysis for rare genetic diseases
misshie/novo-tag-adjust
Convert "A SAM file generated by Novoalign using reference sequences containing ambiguous nucleotides" to "A SAM file with corrected NM tags ignoring ambifuous nucleotides""
misshie/PanelDoC
A targeted-sequencing CNV Calling Script written in R
misshie/tandem-genotypes
misshie/vcfruby
This gem provides a lightweight class, Vcf, which can be used to parse VCF files by giving it one VCF line at a time.
misshie/virtuoso-go-hpo
A dockerfile to invoke the Virtuoso database preloaded GO, HPO and HPO annotations
misshie/xCAT_ja
xCAT information in Japanese