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2 Clinical genome
3 Clinical genome database
4 Clinical genome resource
5 Clinical genome sequencing
6 Clinical genome dosage calculator
7 Clinicalgenomics/com/quest
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9 Clinicalgenomics com quest

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Found 33 Websites with content related to this domain, It is result after search with search engine   DA: 22 PA: 22 MOZ Rank: 44

  • ClinGen is defining the clinical relevance of genes and variants
  • ClinGen was founded in 2013 by the National Human Genome Research Institute, ClinGen is a growing collaborative effort, involving three grants, nine principal investigators and over 1,700 contributors from more than 40 countries
  • Below are a series of recent updates that ClinGen   DA: 25 PA: 25 MOZ Rank: 51

452 rows · The Clinical Genome Resource (ClinGen) consortium is curating genes and regions of the …   DA: 27 PA: 27 MOZ Rank: 56

  • ClinGen Variant & Gene Curation
  • Variant Curation is available for public use
  • To register, create an account via "Login", and then contact our helpdesk at [email protected]
  • Gene Curation is currently restricted to ClinGen curators
  • To collaborate on gene curation contact [email protected]

ClinGen Regions   DA: 25 PA: 11 MOZ Rank: 39

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional.

The ISCA Database   DA: 27 PA: 27 MOZ Rank: 58

  • The ISCA Database Search has been archived
  • Please use dbVar’s nstd102 (Clinical Structural Variants) for information about structural variants with clinical

Dosage Sensitivity Curation Interface   DA: 22 PA: 22 MOZ Rank: 49

  • Dosage Sensitivity Curation Interface
  • Give feedback to Atlassian; Help
  • Jira Core help; Keyboard Shortcuts; About Jira; Jira Credits

ClinGen CNV Interpretation Calculator   DA: 26 PA: 9 MOZ Rank: 41

  • ClinGen CNV Interpretation Calculator
  • Welcome to the ClinGen CNV Interpretation Calculator
  • The calculator is based on the CNV scoring metrics that appear in the ACMG Technical Standards.This tool is designed to help you keep track of the points you have assigned based on the evidence you have observed, then tallies the points to help you arrive at preliminary CNV classification.

Linked Data Hub UI   DA: 22 PA: 8 MOZ Rank: 37

  • The ClinGen Linked Data Hub (LDH) facilitates efficient access to collated information such as links and select data from different data sources, which are made available using RESTful APIs
  • Currently, LDH focuses on linking information about human genes and variants to …

The Clinical Genome (ClinGen) Resource   DA: 14 PA: 50 MOZ Rank: 72

  • The Clinical Genome (ClinGen) Resource
  • ClinGen collects phenotypic and clinical information on variants across the genome, develops consensus approaches to identifying their clinical relevance, and disseminates this information to researchers and clinicians
  • The resource will advance genomics in clinical care and improve our understanding of

Pathogenicity Calculator   DA: 29 PA: 19 MOZ Rank: 57

  • Clinical Genome Resource Clinical Genome Resource ClinGen Pathogenicity Calculator team is thankful to our distinguished users who submitted their interpretations to ClinVar
  • What is the ClinGen Pathogenicity Calculator? The shift from genetic testing of individual genes to exome and genome sequencing has been accompanied by new

ClinGen Data Exchange   DA: 31 PA: 31 MOZ Rank: 72

This site is dedicated to providing updates on developments and documentation on the Data Exchange platform, data models and tools produced by the ClinGen Data Exchange Working Group.

Expert Panels   DA: 26 PA: 50 MOZ Rank: 87

  • One specific goal of ClinGen is to develop teams of experts in different clinical domains to evaluate the clinical validity of gene-disease relationships and pathogenicity of individual genetic variants
  • Gene Curation Expert Panels implement an approved process of evaluating the strength of evidence supporting or refuting a claim that variation

Merged Actionability Release   DA: 32 PA: 27 MOZ Rank: 71

  • For women, lifetime risk estimates indicate that 12.3% will develop breast cancer and 2.8% will die from it
  • Among a sample of women with non-metastatic breast cancer 1% had an ATM pathogenic variant, and 8.5% of women with early-onset breast cancer were found to have an ATM pathogenic variant.

Dosage Sensitivity Curations   DA: 25 PA: 15 MOZ Rank: 53

  • Page Preferences allow you to save and restore individual settings to your preference
  • Currently this new feature allows you to manage table page number, table page size, table search string, and table column sort order
  • Future releases will also manage advanced filters, column layout, and column search settings

Frequently Asked Questions   DA: 23 PA: 4 MOZ Rank: 41

  • Go to the priorities tab, in the bottom left corner click on “Set New Priorities”
  • In the window that pops up change the curation effort under “First Choice” to your new prioritized curation effort
  • Click “Finish and Finalize”
  • Once you have changed, please contact [email protected] to indicate …

Search Variants In ClinGen Allele   DA: 22 PA: 50 MOZ Rank: 87

  • For instructions on how to register large batches of variants, follow the "API specification" provided on the home page
  • To register new alleles in the Allele Registry, you will need a valid login and password
  • To create a login, please send an email request to [email protected] with a preferred login name.

Evidence Repository   DA: 24 PA: 26 MOZ Rank: 66

  • This resource is intended to provide access to variant level evidence used and applied by ClinGen Variant Curation Expert Panels in the classification of variants
  • In this beta version, the evidence is limited to curation notes and referenced literature (PMIDs)
  • For general information about ClinGen Expert Panels and Variant Curation please

Linked Data Hub UI   DA: 22 PA: 23 MOZ Rank: 62

  • Linked Data Hub UI - Clinical Genome Resources
  • Implemented basic UI features and pages
  • Implemented typed and untyped search
  • Gene based lookups will not contain linked …

Evidence Repository   DA: 24 PA: 50 MOZ Rank: 92

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional.

Custom Genboree Registration For   DA: 22 PA: 14 MOZ Rank: 55

  • Custom Genboree registration for ClinGen Users
  • You must be a registered Genboree user to use the GenboreeKB UI
  • Please log-in with your Genboree credentials or Register first.

Website SiteMap   DA: 26 PA: 15 MOZ Rank: 61

  • The Clinical Genome Resource team has put together a summer panel series for individuals interested in pursuing a career in genomics
  • Sessions will be moderated and panel members will be asked to discuss their work and career paths.

CTNNA3 ClinGen Genome Dosage Map   DA: 25 PA: 17 MOZ Rank: 63

  • Evidence for haploinsufficiency phenotype; PubMed ID Description; 23375656: Girirajan S et al., 2013
  • They designed a microarray, and performed on 2,588 autistic individuals from simplex and multiplex families and in 580 controls.

Merged Actionability Release   DA: 32 PA: 31 MOZ Rank: 85

  • Cystinosis is a multisystemic lysosomal storage disease resulting from a defect in cystine transport out of lysosomes
  • This results in cystine accumulation affecting all tissues; the eyes and kidneys are the first organs to be affected
  • Cell damage and organ dysfunction are heterogeneous and vary in …

CNV Interpretation Scoring Rubric   DA: 26 PA: 17 MOZ Rank: 66

  • CNV Interpretation Scoring Rubric: Copy Number GAIN
  • Full descriptions of each evidence category, including caveats to consider while scoring and illustrative examples, are provided in Supplemental Material 1 [Word Document], published in the ACMG Technical Standards.Also visit the CNV Web Series page to access slides, webinars, examples, and FAQs.

ClinGen--the Clinical Genome Resource   DA: 23 PA: 10 MOZ Rank: 57

  • ClinGen--the Clinical Genome Resource N Engl J Med

Ace Clearwater Enterprises ACE CLEARWATER ENTERPRISES   DA: 15 PA: 22 MOZ Rank: 62

  • Registration: Mar 20, 2014 State ID: 86227641 Status: 688 - Notice of allowance - issued Status date: Oct 14, 2014 Illustration: Drawing with word(s)/letter(s)/number(s) in Block form Attorney: Anne H
  • Peck COOLEY LLP 1299 Pennsylvania Ave Nw Ste 700, Washington, DC 20004 Employee: Christopher Tho Reams Goods & Services: "clinical genome", Analysis of cells, tissues, gene expressions, gene

Evaluating The Clinical Validity Of Gene-Disease   DA: 23 PA: 10 MOZ Rank: 59

  • The NIH-funded Clinical Genome Resource (ClinGen) has developed a framework to define and evaluate the clinical validity of gene-disease pairs across a variety of Mendelian disorders
  • In this manuscript we describe a proposed framework to evaluate relevant genetic and experimental evidence supporting or contradicting a gene-disease relationship

Color Hiring Clinical Genome Scientist In California   DA: 16 PA: 50 MOZ Rank: 93

  • Color California, United States 2 minutes ago Be among the first 25 applicants See who Color has hired for this role Apply on company website Save

Genomics England PanelApp   DA: 30 PA: 30 MOZ Rank: 88

  • The Clinical Genome Resource (ClinGen) consortium is curating genes and regions of the genome to assess whether there is evidence to support that these genes/regions are dosage sensitive and should be targeted on a cytogenomic array
  • Missing genomic coordinates were provided by Dalia Kasperaviciute (Genomics England).

CardioClassifier: Disease- And Gene-specific Computational   DA: 20 PA: 50 MOZ Rank: 99

Department of Geography (859) 257-2931 817 Patterson Office Tower Lexington KY 40506-0027 Fax (859) 257-6277


  • Genome Based Diagnostics Demonstrating Clinical Utility In Oncology Workshop Summary
  • Genome-Based Diagnostics Demonstrating Clinical Utility in Oncology is the summary of a workshop convened in May by the Roundtable on Translating Genomic-Based Research for Health and the Center for Medical Technology Policy of the Institute of Medicine to foster the identified need for further sustained

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