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ClinGen - ClinGen | Clinical Genome Resource

ClinGen - ClinGen" ClinGen, , ClinGen, ClinGen". ClinGen and ClinVar Partnership. ClinGen Curation Activities Overview. ClinGen Terms of Use. Working Groups and Expert Panels. Working Groups and Expert Panels. Clinical Domain Working Groups. Copy Number Variant Interpretation Guidelines. CADRe (Consent and Disclosure Recommendations). Sequence Variant Inter-Laboratory Discrepancy Resolution. Clinical Domain Working Groups. Inborn Errors of Metabolism CDWG. All ClinGen Curation Groups. Somatic/Germline Va...

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Cherry Lab, Stanford Univ

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US

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ch●●●●@stanford.edu

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ClinGen - ClinGen | Clinical Genome Resource | clinicalgenome.org Reviews

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ClinGen - ClinGen ClinGen, , ClinGen, ClinGen. ClinGen and ClinVar Partnership. ClinGen Curation Activities Overview. ClinGen Terms of Use. Working Groups and Expert Panels. Working Groups and Expert Panels. Clinical Domain Working Groups. Copy Number Variant Interpretation Guidelines. CADRe (Consent and Disclosure Recommendations). Sequence Variant Inter-Laboratory Discrepancy Resolution. Clinical Domain Working Groups. Inborn Errors of Metabolism CDWG. All ClinGen Curation Groups. Somatic/Germline Va...

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ClinGen - ClinGen | Clinical Genome Resource | clinicalgenome.org Reviews

https://clinicalgenome.org

ClinGen - ClinGen" ClinGen, , ClinGen, ClinGen". ClinGen and ClinVar Partnership. ClinGen Curation Activities Overview. ClinGen Terms of Use. Working Groups and Expert Panels. Working Groups and Expert Panels. Clinical Domain Working Groups. Copy Number Variant Interpretation Guidelines. CADRe (Consent and Disclosure Recommendations). Sequence Variant Inter-Laboratory Discrepancy Resolution. Clinical Domain Working Groups. Inborn Errors of Metabolism CDWG. All ClinGen Curation Groups. Somatic/Germline Va...

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search.clinicalgenome.org

ClinGen Knowledge Base | Clinical Genome Resource

ClinGen and ClinVar Partnership. ClinGen Curation Activities Overview. Working Groups and Expert Panels. Working Groups and Expert Panels. Clinical Domain Working Groups. Copy Number Variant Interpretation Guidelines. Education, Engagement and Counseling. CADRe (Consent and Disclosure Recommendations). Sequence Variant Inter-Laboratory Discrepancy Resolution. Clinical Domain Working Groups. Inborn Errors of Metabolism CDWG. Gene and Variant Expert Panels. Brugada Syndrome Gene Curation Expert Panel.

reg.clinicalgenome.org

Allele Registry

Search ClinGen Allele Registry. NM 002496.3:c.64C T. ENST00000413465.6:c.637C T. NC 000017.10:g.7578212G A. Reference sequence and position. What is the Allele Registry? To facilitate wide integration of the registry services with existing software and workflows for variant evaluation, e.g. Pathogenicity Calculator. All the functionalities of the registry are exposed via REST APIs. The API allows also for bulk query and registration of variants. Hundreds of variants saved as a VCF file or a list ...

datamodel.clinicalgenome.org

ClinGen Data Model

Is an NIH-funded resource centered on clinically-relevant genomic alleles. The goal of the ClinGen project is to enhance patient care through:. Sharing of clinically-relevant genomic data. Expert curation, creating knowledge from genomic data. Machine learning on genomic data to discover new clinical relevance. The ClinGen Data Model Working Group. Was formed in order to:. Provide a common and consistent set of definitions around the core concepts, attributes and terminology throughout the ClinGen domain.

calculator.clinicalgenome.org

Pathogenicity Calculator

What is the ClinGen Pathogenicity Calculator? The shift from genetic testing of individual genes to exome and genome sequencing has been accompanied by new challenges in genome interpretation. The American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) have published Standards and Guidelines for the Interpretation of Sequence Variants. Using the current Calculator interface one may (1) identify an allele within the ClinGen Allele Registry. Description of A...

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clinicalgenome.org

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Genomic Variant - ClinGen | Clinical Genome Resource

https://www.clinicalgenome.org/knowledge-curation/sequence-variant-curation

Genomic VariantGuide improvement and enhancement of the sequence variant guidelines and support standardization of copy number interpretation. - ClinGen" Genomic Variant, , ClinGen, ClinGen". GenomeConnect - ClinGen's Patient Portal. Why Share Genomic Data? How Do Genes Affect Health? ClinGen and ClinVar Partnership. IT Standards and Data Submission. Education, Engagement and Counseling. CADRe (Consent and Disclosure Recommendations). ClinGen Curated Genes and Diseases. Structural Variant Lab Contact Form.

2

Working Groups - ClinGen | Clinical Genome Resource

https://www.clinicalgenome.org/machine-learning

Working Groups - ClinGen" Working Groups, , ClinGen, ClinGen". GenomeConnect - ClinGen's Patient Portal. Why Share Genomic Data? How Do Genes Affect Health? ClinGen and ClinVar Partnership. IT Standards and Data Submission. Education, Engagement and Counseling. CADRe (Consent and Disclosure Recommendations). ClinGen Curated Genes and Diseases. Gene-Disease Clinical Validity Classifications. Structural Variant Lab Contact Form. Structural Variation Database Search. ClinGen In The News. Clinical Validity C...

3

GenomeConnect - ClinGen's Patient Portal - ClinGen | Clinical Genome Resource

https://www.clinicalgenome.org/genomeconnect/for-participants

GenomeConnect - ClinGen's Patient Portal - ClinGen" GenomeConnect - ClinGen's Patient Portal, , ClinGen, ClinGen". GenomeConnect - ClinGen's Patient Portal. Why Share Genomic Data? How Do Genes Affect Health? ClinGen and ClinVar Partnership. IT Standards and Data Submission. Education, Engagement and Counseling. CADRe (Consent and Disclosure Recommendations). ClinGen Curated Genes and Diseases. Gene-Disease Clinical Validity Classifications. Structural Variant Lab Contact Form. ClinGen In The News. How w...

4

Working Groups - ClinGen | Clinical Genome Resource

https://www.clinicalgenome.org/machine-learning/experimental-validation

Working Groups - ClinGen" Working Groups, , ClinGen, ClinGen". GenomeConnect - ClinGen's Patient Portal. Why Share Genomic Data? How Do Genes Affect Health? ClinGen and ClinVar Partnership. IT Standards and Data Submission. Education, Engagement and Counseling. CADRe (Consent and Disclosure Recommendations). ClinGen Curated Genes and Diseases. Gene-Disease Clinical Validity Classifications. Structural Variant Lab Contact Form. Structural Variation Database Search. ClinGen In The News. Clinical Validity C...

5

Working Groups - ClinGen | Clinical Genome Resource

https://www.clinicalgenome.org/knowledge-curation

Working Groups - ClinGen" Working Groups, , ClinGen, ClinGen". GenomeConnect - ClinGen's Patient Portal. Why Share Genomic Data? How Do Genes Affect Health? ClinGen and ClinVar Partnership. IT Standards and Data Submission. Education, Engagement and Counseling. CADRe (Consent and Disclosure Recommendations). ClinGen Curated Genes and Diseases. Gene-Disease Clinical Validity Classifications. Structural Variant Lab Contact Form. Structural Variation Database Search. ClinGen In The News. Clinical Validity C...

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vcfclin.org

Specification

http://vcfclin.org/specification

Working Group Discussion & Updates. Questions & Answers. Questions about login in using your Google account. Questions about login in using your LinkedIn account. Clinical Variant Call Format. Genome Variation Format (Clinical) – placeholder for VCFclin specification. To be updated. A Quick Explanation and Example of GVF Content. GVFclin: GVF Support for Clinically Relevant HL7 Messaging. Note on GVFClin/GVF relationship. GVF Column 9 Attributes. Genome. The GVF format was published in. GVF format for th...

calculator.clinicalgenome.org

Pathogenicity Calculator

http://calculator.clinicalgenome.org/site/cg-faqs

Pathogenicity Calculator: Frequently Asked Questions. Pathogenicity Calculator: Frequently Asked Questions. Pathogenicity Calculator: Frequently Asked Questions. How can I get access to the Pathogenicity Calculator? How can I change my password? To change the password. You will need to provide your existing password. If you forgot your password, visit here. To retrieve your password. Are there tutorials/use cases that may help to introduce to various calculator functionalities? A recurrent user ( here.

pharmgkb.blogspot.com

PharmGKB Blog: April 2016

http://pharmgkb.blogspot.com/2016_04_01_archive.html

Wednesday, April 20, 2016. Introducing the new PharmGKB Cancer PGx Portal. PharmGKB has collected a number of resources for Cancer PGx into one easy location. There are tables with direct links to genes important for cancer drug response both for PD and PK, to cancer drug pathways, particular cancers that have PGx data, types of toxicities common to cancer drugs, and external resources. Anyone with expertise in the genes who wishes to develop these with us for publication in PG&G, please contact feedback.

pittgenetics.com

PITTSBURGH CYTOGENETICS LABORATORY: Links

http://www.pittgenetics.com/RELATEDLINKS.htm

POSTNATAL AND ADULT TESTING. PRODUCTS OF CONCEPTION TESTING. Testing for Hematology Disorders. Testing for Solid Tumors. RESIDENT AND FELLOW TRAINING. American Board of Medical Genetics and Genomics. American College of Medical Genetics (ACMG). American Society of Human Genetics (ASHG). Association of Genetic Technologists (AGT). Clinical Genome Resource (ClinGen). Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (DECIPHER). Database of Genomic Variants.

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clinicalgenetics.ir

ژنتیک بالینی | ژنتيك نوين در پزشكي روزمره

ژنتيك نوين در پزشكي روزمره. ثبت نام اعضا جدید. مجموعه درس های مشاوره ژنتیک. مقدمه مشترک درس های مشاوره ژنتیک. کتاب اول: اصول مشاوره ژنتیک. کتاب دوم: ملاحظات اخلاقی در مشاوره ژنتیک. کتاب سوم:ملاحظات حقوقی در مشاوره ژنتیک. کتاب چهارم: ملاحظات روانشناختی در مشاوره ژنتیک. کتاب پنجم: آتروفی عضلانی نخاعی. کتاب ششم: سرطان کولون غیر پولیپی ارثی. کتاب هفتم: کلیه پلی کیستیک با وراثت اتوزوم غالب. کتاب هشتم: تالاسمی بتا. کتاب نهم: تالاسمی آلفا. کتاب دهم: اختلالات شنوایی ارثی. کتاب یازدهم: هموفیلی A. محققین توانسته ا...

clinicalgenetics2015.com

Dear colleagues and friends,. The goal and expectation of our Symposium is the provision of contemporary scientific knowledge and information from highly-esteemed International as well as Greek speakers. The comprehension of the genetic mechanisms and the ability of the right diagnosis, prognosis and prevention for the benefit of the patients demand specialized education and experience. It is great pleasure and honor for me to invite you and expect you all to participate in the 1st Symposium of Clinical ...

clinicalgeneticsaiimswhocc.org

AIIMS

Instructions on Prenatal and Postnatal samples. How, When, Where. Time for Blood Collection. Division of Genetics, Department of Pediatrics, AIIMS. Division of Genetics, Department of Pediatrics at the All India Institute of Medical Sciences, New Delhi (AIIMS) has been a pioneer in providing genetic services since 1966. It is one of the very few centers in the country which provides comprehensive clinical care, diagnostic and prenatal diagnostic facilities and counseling, for genetic disorders. January 2...

clinicalgeneticsonline.com

Clinical Genetics Online.com

Clinical Genetics Online.com. DrSamir.K.Munir@clinicalgeneticsonline.com. This will be the parent site, of a series of web sites covering the medical field of clinical genetics. 1- Online Mendelian Inheritance in Man. Wwwncbi.nlm.nih.gov/omim. 2- Nature Genome Gateway. 3- UCSC Genome Bioinformatics. Http:/ genome.ucsc.edu. Wwwncbi.nlm.nih.gov/sites/GeneTests. 5- KUMC Clinical Genetics Site. 6- American Society of Human Genetics. 7- European Society of Human Genetics. 8- British Society for Human Genetics.

clinicalgenome.com

Genome

clinicalgenome.org

ClinGen - ClinGen | Clinical Genome Resource

ClinGen - ClinGen" ClinGen, , ClinGen, ClinGen". ClinGen and ClinVar Partnership. ClinGen Curation Activities Overview. ClinGen Terms of Use. Working Groups and Expert Panels. Working Groups and Expert Panels. Clinical Domain Working Groups. Copy Number Variant Interpretation Guidelines. CADRe (Consent and Disclosure Recommendations). Sequence Variant Inter-Laboratory Discrepancy Resolution. Clinical Domain Working Groups. Inborn Errors of Metabolism CDWG. All ClinGen Curation Groups. Somatic/Germline Va...

clinicalgenomeconference.com

Clinical Genome Conference

The reliability, robustness and reproducibility of next-generation sequencing platforms are no longer questioned, making the unstoppable march of genomics into clinical practices a reality. However, many challenges remain for the successful translation of genomic knowledge into health advances and clinical utility. Bio-IT World and Cambridge Healthtech Institute are again proud to host the Fourth Annual TCGC: The Clinical Genome Conference. Day 1 Day 2. Monday, June 22. 10:00 am-1:00 pm Short Course.

clinicalgenomes.com

clinicalgenomes.com is coming soon

Is a totally awesome idea still being worked on.

clinicalgenomicconsultants.com

Clinical Genomics Consulting LLC

clinicalgenomics-usa.com

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clinicalgenomics.ca

Home - Clinical Genomics

Cost Effective High Throughput Genotyping and Sequencing Services. The Clinical Genomics Centre provides a broad range of services. From upstream study design and grant writing support through to downstream data analysis. We are a state-of-the-art, full service genomics technology facility that operates under cGLP guidelines to meet the rigorous standards necessary for DNA/RNA analysis and generating quality data. For a quote or more information please contact us:. 416 586 4800 x5618.