Resources on statgenpro.psychiatry.hku.hk

SNP Array Software

Name Description Path on server Version
PennCNV Copy Number Variation (CNV) detection from signal intensity data from Illumina and Affymetrix arrays (http://www.openbioinformatics.org/penncnv/) /software/cnvpipeline/penncnv/ 2010May01
QuantiSNP Copy Number Variation (CNV) detection from signal intensity data from Illumina arrays (http://www.well.ox.ac.uk/QuantiSNP/) /software/cnvpipeline/QuantiSNP/quantisnp/
2.3 Beta
CNV Pipeline Simplify all stages of predicting and analyzing CNVs, from running prediction algorithms and combining their results to visualizing the raw data and designing qPCR primers for confirmation (http://www.yale.edu/state/Homepage.htm) /software/cnvpipeline 1.0
Eigenstrat Detects and corrects for population stratification in genome-wide association studies (http://genepath.med.harvard.edu/~reich/Software.htm) /software/eigenstrat 3.0
GenePool Provides analysis tools for the detection of shifts in relative allele frequency between pooled genomic DNA from cases and controls using SNP-based genotyping microarrays (http://genepool.tgen.org/) /software/GenePool 0.8.2
IMPUTE2 Estimating ("imputing") unobserved genotypes in SNP association studies (https://mathgen.stats.ox.ac.uk/impute/impute_v2.html) /software/impute 2

Sequencing Software

Name Description Path on server Version
Fastx Toolkit Preprocess the FASTA/FASTQ files before mapping the sequences to the genome (http://hannonlab.cshl.edu/fastx_toolkit/) Accessible from any folder 0.0.13
Fastqc Quality control tool for high throughput sequence data (http://www.bioinformatics.bbsrc.ac.uk/projects/fastqc/) /software/sequencing/FastQC 0.9
bwa Burrows-Wheeler Alignment Tool (http://bio-bwa.sourceforge.net/bwa.shtml) /software/sequencing/bwa_latest 0.5.9
Picard tools Utilities that manipulate SAM files and SAM-JDK creating new programs that read and write SAM files. (http://picard.sourceforge.net/) /software/sequencing/picard_latest 1.47
SAMTOOLS SAM Tools provide various utilities for manipulating alignments in the SAM format including sorting, merging, indexing and generating alignments in a per-position format. (http://samtools.sourceforge.net/) /software/sequencing/samtools_latest 0.1.16
GATK Coverage analyzers, a quality score recalibrator, a SNP/indel caller and a local realigner (http://www.broadinstitute.org/gsa/wiki/index.php/The_Genome_Analysis_Toolkit ) /software/sequencing/GATK_latest 1.0.5777
Dindel A program for calling small indels from short-read sequence data. It is currently designed to handle only Illumina data. (http://www.sanger.ac.uk/resources/software/dindel/ ) /software/sequencing/dindel_latest 1.01
BEDtools The BEDTools utilities allow one to address common genomics tasks such as finding feature overlaps and computing coverage. (http://code.google.com/p/bedtools/)/software/sequencing/BEDTools_latest 2.12
PINDEL Pindel can detect breakpoints of large deletions, medium sized insertions, inversions, tandem duplications and other structural variants at single-based resolution from next-gen sequence data. (https://trac.nbic.nl/pindel/wiki/UserManual)/software/sequencing/Pindel_latest 0.2

Data

Name Description Path on server Last update
HapMap LD data LD data of 11 populations in HapMap phase 3 /data/HapMap/LD 2009-4-20
1000 Genome genotype Genotype data of 1000 genome project (African, Asian, European) /data/1000G/genotype 2011-3-11