informatics.jax.org
Human - Mouse Disease Connection
http://www.informatics.jax.org/humanDisease.shtml
Human - Mouse: Disease Connection. The Human - Mouse: Disease Connection (HMDC) is designed to facilitate the identification of published and potential mouse models of human disease, the discovery of candidate genes and the investigation of phenotypic similarity between mouse models and human patients. More …. Downloads and Useful Links. Mouse Genotypes with both Phenotype and Disease Annotations. For Marker Type Genes, excluding conditional mutations. All downloads for Alleles and Phenotypes. Beta: Exom...
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.
macarthurlab.org
Jobs | MacArthur Lab
https://macarthurlab.org/jobs
Extracting useful information from large genomic datasets. About the MacArthur Lab. We are a tight-knit research group jointly based as Massachusetts General Hospital. And the Broad Institute of Harvard and MIT. And leveraging the largest genomic data sets in the world. And cutting-edge analysis methods to make sense of human genetic variation. We’re committed to open data and open-source code, as well as experimenting with new methods of communication. To apply, email Daniel. Currently, we have no funde...
macarthurlab.org
Exome aggregation | MacArthur Lab
https://macarthurlab.org/exome-aggregation
Extracting useful information from large genomic datasets. Assembling a catalogue of human protein-coding variation. Together with collaborators from a wide range of disease-specific research consortia we have assembled and reprocessed the world’s largest collection of human exome data, the Exome Aggregation Consortium (ExAC) collection, providing unprecedented resolution of the patterns of genetic variation in human protein-coding genes. We have released a public dataset. Of our manuscript, or our recent.
macarthurlab.org
Code | MacArthur Lab
https://macarthurlab.org/code
Extracting useful information from large genomic datasets. We believe in making our code open source. The following GitHub repositories contain genomics tools you may find useful:. Is a software tool we use for searching for causal variants in Mendelian disease families. Is a plugin for the Ensembl Variant Effect Predictor that improves the detection and filtering of candidate protein-truncating variants. Is the code behind our ExAC browser. Provides tools to parse NCBI’s ClinVar. Enter your comment here.
ng.neurology.org
Epileptic spasms are a feature of DEPDC5 mTORopathy
http://ng.neurology.org/content/1/2/e17.full
Skip to main page content. Innovations in Care Delivery. Neurology: Neuroimmunology and Neuroinflammation. Editors and Editorial Board. Submit a Peer Review. Sign up for eAlerts. Epileptic spasms are a feature of. Gemma L. Carvill. Douglas E. Crompton. Brigid M. Regan. Jacinta M. McMahon. Katherine B. Howell. MBBS (Hons), BMedSc. Richard J. Leventer. Saul A. Mullen. Samuel F. Berkovic. Ingrid E. Scheffer. Heather C. Mefford. Correspondence to Dr. Mefford: hmefford{at}uw.edu. Employment, Commercial Entity:.
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.
prosciconsulting.com
Useful Links - ProSci LLC
http://www.prosciconsulting.com/useful-links.html
These portals were commonly used in past projects and assembled here for quick references by staff, clients and the public at large. Please feel free to forward your suggestions, we strive to update relevant links on a quarterly basis. Common search engines and wiki for protein identification. NCBI Entrez Cross-Database Search. National Human Genome Research Institute. Exome Aggregation Consortium (beta). Protein analysis and structure prediction. Expert Protein Analysis System. Protein Data Base (PDB).
ngs-brescia.blogspot.com
NGS: News on Genomic Studies: October 2014
http://ngs-brescia.blogspot.com/2014_10_01_archive.html
NGS: News on Genomic Studies. A blog with news and curiosity on genomics subjects with a particular interest for topics related to Next Generation Sequencing, Personal Genomics and Bioinformatics. We work at the University of Brescia (Italy) and are new in the field but with a lot of energy to share. Thursday, 30 October 2014. Exome Aggregation Consortium release its data on 63,000 exomes! On October 29th, the Exome Aggregation Consoritum. As released its browser. See more information on Nature News.
