Genome in a Bottle (GIAB) Consortium
The Genome in a Bottle (GIAB) Consortium is a public-private-academic consortium ho...rence methods, and reference data) to enable translation of whole human genome sequencing to clinical practice. https...1618 days ago
FastGT: an alignment-free method for calling common SNVs directly from raw sequencing reads
FastGT is a program package for whole-gen...of genome variants directly from raw sequencing reads. It is written in...ses a list of variant-specific k-mer pairs that are unique in human genome, counts the frequency of k-mers in sequencing data and predicts the genotyp...1616 days ago
vt: a variant tool set that discovers short variants from Next Generation Sequencing data.
vt is a variant tool set that discovers short variants from Next Generation Sequencing data. https://genome.sph.umich.edu/wiki/Vt https://github.com/atks/vt1616 days ago
HASLR: a tool for rapid genome assembly of long sequencing reads
HASLR is a tool for rapid genome assembly of long sequencing reads. HASLR is a hybrid tool which mean...long reads generated by Third Generation Sequencing technologies (such as PacBio...Nanopore) together with Next Generation Sequencing reads (such as Illumina) from...1613 days ago
1610 days ago
Rcorrector: efficient and accurate error correction for Illumina RNA-seq reads
Rcorrector has an accuracy higher than or comparable to existing method...comma separated files for the first mate in the paried-end data sets...comma separated files for the second mate in the paired-end data sets -i seq_file...comma sperated files for interleaved paired-end...1608 days ago
Musket - a multistage k-mer spectrum based corrector
Musket is a well-established leading next-generation sequencing read error correction algorithm targetting Illumina sequencing. This corrector employs the k-mer spectrum approach and introduces three correction technique...1608 days ago
1605 days ago
Deepbinner: a signal-level demultiplexer for Oxford Nanopore reads
Deepbinner is a tool for demultiplexing barcoded Oxford Nanopore sequencing reads. It does this with a deep convolution...1603 days ago
iSeqQC: a tool for expression-based quality control in RNA sequencing
iSeqQC, an expression-based QC tool that detects outliers either produced due to variable laboratory conditions or due to dissimilarity within a phenotypic group. iSeqQC...1596 days ago