gastroenterology.blueprintgenetics.com
Genetic testing for Pancreatitis - Gastroenterology
http://gastroenterology.blueprintgenetics.com/panels/pancreatitis-panel
Blueprint Genetics - Gastroenterology. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Our Sequence Analysis is based on a proprietary targeted sequencing method OS-Seq and offers panels targeted for genes associated with certain phenotypes. A standard way to analyze NGS data for finding the genetic cause for Mendelian disorders. Results in 21 days. Targeted Del/Dup (CNV) analysis is used to detect bigger disease causing deletions or duplications from the disease-associated genes. Results in 21 days.
rvs.u.hpc.mssm.edu
RVS — the Reference Variant Store
https://rvs.u.hpc.mssm.edu/about.php
Information provided by RVS. RVS currently contains more than 520 million variants, obtained from these studies:. 1000 Genomes Phases 1 and 3 (1092 and 2535 samples, respectively; WGS). ESP6500 (6503 samples, WES). Scripps Wellderly (534, WGS). UK10K (7320: 4888 WES and 2432 WGS). GERA ( 78,000, genotyping). TCGA (4415, mixed WES and WGS). Mt Sinai BioBank (11,210, genotyping; visible to Mount Sinai users only). And these sample-independent resources and annotation databases:. Information provided by RVS.
metabolic-disorders.blueprintgenetics.com
Genetic testing for inborn error of metabolism
http://metabolic-disorders.blueprintgenetics.com/panels/comprehensive-metabolism-panel
Blueprint Genetics - Metabolic Disorders. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Our Sequence Analysis is based on a proprietary targeted sequencing method OS-Seq and offers panels targeted for genes associated with certain phenotypes. A standard way to analyze NGS data for finding the genetic cause for Mendelian disorders. Results in 21 days. Results in 3-4 weeks. We do not offer a maternal cell contamination (MCC) test at the moment. We offer prenatal testing only for cases where the ...Click...
promegaconnections.com
Molecular Autopsies in the Whole Genome Sequencing Era
http://www.promegaconnections.com/molecular-autopsies-in-the-whole-genome-sequencing-era
Molecular Autopsies in the Whole Genome Sequencing Era. Thoughts, tech tips and news about science from Promega Corporation. August 10, 2015. Molecular Autopsies in the Whole Genome Sequencing Era. Engraving of the human heart by T. Milton, 1814. Image courtesy of Wikimedia Commons. Every year, nearly 8 million people die from sudden cardiac death. And a regular heart rate. Defects in these ion channel often result in cardiac arrhythmias. Which are detected by electrocardiography. To date researchers hav...
umd-predictor.eu
UMD-Predictor
http://www.umd-predictor.eu/index.php
In order to use UMD Predictor you need to have a validated account or register. UMD-Predictor is freely available for non-commercial users. Nevertheless it is not allowed to copy all or part of the database content without specific authorisation from us. If you are a commercial user. Please contact us to obtain a dedicated license. For more information please contact Prof. Christophe Béroud. Or Dr David Salgado. UMD-Predictor: A mutation pathogenicity prediction system. As underlined by Pabinger et al.
mitonet.charite.de
bioinformatics team [Neuropädiatrie - Charité Berlin]
http://mitonet.charite.de/team/index.html
Markus.schuelke AT charite.de. Jana-marie.schwarz AT charite.de. Dominik.seelow AT charite.de.
statgen.research.bcm.edu
2015AdvancedGeneMapping - Center for Statistical Genetics
https://statgen.research.bcm.edu/index.php/2015AdvancedGeneMapping
Center for Statistical Genetics. Nobody is logged in. From Center for Statistical Genetics. Advanced Gene Mapping Course. Lecture Handouts & Practical Exercises. Advanced Gene Mapping Course. The Rockefeller University, New York, Monday through Friday, Feb. 9-13, 2015. The course emphasis is analysis of complex human disease traits; concentrating on methods to detect rare and common variant associations. The course includes theory as well as practical exercises. Lecture Handouts & Practical Exercises.
stronglab.org
Strong Lab, Michael Strong
http://www.stronglab.org/links.html
Strong Laboratory for Computational and Molecular Genomics. Integrated Center for Genes, Environment, and Health. National Jewish Health, Denver, CO. STRING: functional protein association networks. JCVI Comprehensive Microbial Resource. RAST (Rapid Annotation using Subsystem Technology). ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data. SAMtools, (Sequence Alignment/Map) tools. List of 100 Bioinformatics Software Packages for OSX. Human Gene Mutation Database (HGMD).
