ClinCNV: Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data
ClinCNV detects CNVs in germline and somatic context in NGS data (targeted and whole-genome). We work in cohorts, so it ma...ith approximately the same depth (ie 1x WGS and 3...your samples were sequenced within the same sequencing facility.1629 days ago
MGSE: Mapping-based Genome Size Estimation
MGSE can harness the power of files generated in genome sequencing projects to predict the genome size. Re...STA file containing a high continuity assembly and a...ate the coverage in provided reference regions and to calculate the total number of map...1629 days ago
1620 days ago
Genome in a Bottle (GIAB) Consortium
The Genome in a Bottle (GIAB) Consortium is a public-private-academi...hnical infrastructure (reference standards, reference methods, and reference data) to enable translation of whole human genome seque...2016/09/nist-releases-new-family-standardized-genomes1620 days ago
FastGT: an alignment-free method for calling common SNVs directly from raw sequencing reads
FastGT is a program package for whole-genome genotyping of genome variants directly from raw sequencing reads. It is written in C and r...genome, counts the frequency of k-mers in sequencing data and predicts the genotype. All this take...1618 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/vt1618 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...1615 days ago
1612 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 seque...the k-mer spectrum approach and introduces three correction techniqu...s, in terms of correction quality and de novo genome assembly measures, re...1610 days ago
1607 days ago