kallisto: a program for quantifying abundances of transcripts from bulk and single-cell RNA-Seq data
...bility of reads with targets, without the need for alignment. On benchmarks with standard RNA-Seq data, kallisto can quantify 30 million human reads in less than 3 minutes...1944 days ago
1931 days ago
DISTRUCT: a program for the graphical display of population structure
...r programs. The figures produced by distructdisplay individual membership coefficients in the same form as used in "Genetic structure of human populations" Science&nbs...1867 days ago
HumCFS: a database of fragile sites in human chromosomes
...s/regions (CFS), several line of evidence suggests their involvement in human pathologies and they have bee...for chromosomal re-arrangement. There is large gap in our knowledge of human CFS region as knowledge about...1840 days ago
simuG: a general-purpose genome simulator
...variants (single nucleotide polymorphisms, Insertions/Deletions, copy number variants, inversions and translocations) for any organisms (including human). The simplicity and versatil...1619 days ago
Genome in a Bottle (GIAB) Consortium
...hosted by NIST to develop the technical infrastructure (reference standards, reference methods, and reference data) to enable translation of whole human genome sequencing to clinical...1561 days ago
FastGT: an alignment-free method for calling common SNVs directly from raw sequencing reads
...ts directly from raw sequencing reads. It is written in C and runs in Linux. FastGT uses a list of variant-specific k-mer pairs that are unique in human genome, counts the frequency...1558 days ago
The Global Alliance for Genomics and Health (GA4GH)
...s and Health (GA4GH) is a policy-framing and technical standards-setting organization, seeking to enable responsible genomic data sharing within a human rights framework. GA4GH core...1547 days ago
netGO: R-Shiny package for network-integrated pathway enrichment analysis
...provides user-interactive visualization of enrichment analysis results and related networks. Currently, netGO supports analysis for four species (Human, Mouse, Arabidopsis...1543 days ago
SeqMule: Automated human exome/genome variants detection
SeqMule takes single-end or paird-end FASTQ or BAM files, generates a script consisting of more than 10 popular alignment, analysis tools and runs the script line by line. Users can change the pipeline or fine-tune the parameters by modifying its configuration file.1537 days ago