Results for "clinical diagnosis"
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Coupling established clinical–pathological indexes with state-of-the-art molecular profiling to create diagnostic, prognostic, and therapeutic strategies precisely...3915 days ago
- Horizontal gene transfer (HGT), the transfer of genetic material between organisms, is crucial for genetic innovatio...ortance in detecting HGT between congeneric species or strains, especially in clinical...
2883 days ago
Strand Life Sciences announces the release of Strand NGS v3.1 at ASHG 2017
Strand Life Sciences announces the release of Strand NGS v3.1 at ASHG 2017 ORLANDO, USA, Oct 17, 2017/ PRNewswire/...ns for healthcare using genomics. By enhancing sequence-based diagnostics and clinical...2395 days ago
Platypus: A Haplotype-Based Variant Caller For Next Generation Sequence Data
Platypus is a tool designed for efficient and accurate variant-detection in high-throughput sequencing data. By...t of the Thousand Genomes and WGS500 projects, and is being used in clinical...2028 days ago
- REACTOME is an open-source, open access, manually curated and peer-reviewed pathway database. Our goal is to provide...zation, interpretation and analysis of pathway knowledge to support basic and clinical...
1961 days ago
EXCAVATOR: detecting copy number variants from whole-exome sequencing data
EXCAVATOR, for the detection of copy number variants (CNVs) from whole-exome sequencing data. EXCAVATOR combines a t...able tool for the investigation of CNVs in largescale projects, as well as in clinical...1957 days ago
Genome in a Bottle (GIAB) Consortium
The Genome in a Bottle (GIAB) Consortium is a public-private-academic consortium hosted by NIST to develop the techn...and reference data) to enable translation of whole human genome sequencing to clinical...1570 days ago
Dahak: benchmarking and containerization of tools for analysis of complex non-clinical metagenomes.
Dahak is a software suite that integrates state-of-the-art open source tools for metagenomic analyses. Tools in the dahak software suite will perform various steps in me...1496 days ago
- VICUNA is a de novo assembly program targeting populations with high mutation rates. It creates a sin...ation of the mixed population on which intra-host variants can be mapped. For clinical...
1358 days ago
