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ClinGen Resource
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Добавлен 12 мар 2015
ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
Physician Careers Webinar
Outside of the clinical realm, there are many opportunities in genomics including research, software development, bioinformatics, etc. During this 2024 webinar several individuals from different backgrounds will discuss their experiences in the field of genetics.
Просмотров: 110
Видео
ClinGen Clinical Genomics Career Panel 2024 - Clinical Laboratory Opportunities
Просмотров 167День назад
Clinical laboratory geneticists and other laboratory staff work together to facilitate patient's clinical genetic testing. Together, their efforts contribute to performing the testing, interpreting the results, writing reports, and communicating back the to healthcare provider. During this 2024 webinar individuals in these roles will discuss their experiences and career paths.
Pharmacogenomics (PGx) Working Group Overview
Просмотров 12614 дней назад
In this call, Michelle Whirl-Carrillo PhD, Li Gong PhD, and Clarissa Klein from the Pharmacogenomics (PGx) Working Group presents an overview/update on the PGx working group. Presenter: Michelle Whirl-Carrillo PhD, Li Gong PhD, and Clarissa Klein Recorded on: June 27th, 2024 for the ClinGen Biocurator Working Group
GenomeConnect Webinar: GenomeConnect and the Brain Gene Registry:
Просмотров 6414 дней назад
Learn about GenomeConnect's (www.genomeconnect.org/) work with the Intellectual and Developmental Disability Research Center-Clinical and Translational Science Awards (IDDRC-CTSA) National Brain Gene Registry (braingeneregistry.wustl.edu/). The Brain Gene Registry is working to learn more about the impacts of specific genes on the brain and behaviors. The Brain Gene Registry's Dr. Maya Chopra ...
ClinGen Clinical Genomics Career Panel Series 2024 - Genetic Counselors
Просмотров 13814 дней назад
Genetic counselors can work in a variety of settings including clinic, research, and industry. During this webinar from 2024, several genetic counselors from different backgrounds will discuss their experiences in the field of genetic counseling.
ClinGen Clinical Genomics Career Panel Series 2024 - LGBTQIA+ Career in Genetics Webinar
Просмотров 3821 день назад
During this webinar from 2024 hosted by ClinGen’s LGBTQIA Affinity group, members of the LGBTQIA community will discuss their career paths, their experiences as LGBTQIA members of the genetics workforce, and how their identity has shaped the work they do.
Overview/Updates on the Hemostasis/Thrombosis GCEP
Просмотров 107Месяц назад
In this call, Justyne Ross, PhD from the Biocuration core at UNC presents an update on the Hemostasis/Thrombosis GCEP. Presenter: Justyne Ross, PhD Recorded on: June 12th, 2024 for the ClinGen Biocurator Working Group
Overview of the Somatic Cancer CDWG VCEPs and taskforces
Просмотров 126Месяц назад
In this video, Jason Saliba, PhD from the Somatic Cancer CDWG gives an overview of the Somatic Cancer VCEPs and taskforces. Presenter: Jason Saliba, PhD Recorded on: May 23rd, 2024 for the ClinGen Biocurator Working Group
Genetic Ancestry: Algorithms and Applications
Просмотров 1522 месяца назад
Genetic ancestry is sometimes advanced as a "solution" for avoiding complex socially constructed identifiers, and at other times it is seen as a problem, incorrectly suggesting that genes and identity should, or could, be linked. In this forum talk, Dr. Ioannidis will discuss various algorithms we have developed for describing population genetic structure, and how these can be interpreted in te...
GenomeConnect Webinar: How to Read a Genetic Testing Report
Просмотров 4332 месяца назад
GenomeConnect genetic counselors provide an introduction to chromosomes, DNA and genes, types of genetic changes (variants), types of genetic testing, other common genetics terms on laboratory reports. In addition, we walk through a sample microarray and sequence variant report. To learn more about GenomeConnect visit GenomeConnect's page on ClinGen's website: clinicalgenome.org/genomeconnect/....
NCBI Datasets
Просмотров 1552 месяца назад
In this video, Nuala O'Leary presented an overview and a live demo of the NCBI Datasets. Presenter: Nuala O'Leary (NIH/NLM/NCBI) Recorded on: April 25th, 2024 for the ClinGen Biocurator Working Group
All of Us Research Project
Просмотров 1753 месяца назад
In this video, Ashley Green from the All of Us Research Project presented an overview of the AoU program along with a demo of the Researcher Workbench and the public data browser. Useful links for AoU: Research Hub - www.researchallofus.org/ Data Browser - databrowser.researchallofus.org/ Data Roadmap - allof-us.org/Roadmap Register for the Researcher Workbench - www.researchallofus.org/registe...
Overview of the Dosage Sensitivity Working Group
Просмотров 1313 месяца назад
In this video, Erica Anderson, PhD provides a brief overview of the Dosage Sensitivity Working Group and updates on their progress. Presenter: Erica Anderson, PhD Recorded on: October 11th, 2023 for the ClinGen Biocurator Working Group
Gene Curation SOP Updates
Просмотров 1713 месяца назад
In this video, Courtney Thaxton, PhD provides an update on the Gene-Disease Validity SOPv.10 on behalf of the ClinGen Gene Curation Working Group. In the second half, the Variant curation working group wrapped up the variant curation Q&A from the September 13th call. Presenter: Courtney Thaxton, PhD Recorded on: October 26th, 2023 for the ClinGen Biocurator Working Group
Retina GCEP Updates
Просмотров 1273 месяца назад
In this call, Bill Hankey, PhD from the Biocuration core at UNC presents an update on the Retina GCEP. Presenter: Bill Hankey, PhD Recorded on: January 10th, 2024 for the ClinGen Biocurator Working Group
ClinGen Biocurator Working Group 2023 End of Year Wrap-up
Просмотров 1763 месяца назад
ClinGen Biocurator Working Group 2023 End of Year Wrap-up
UCSC Genome Browser: Tracks, tips and tricks
Просмотров 2933 месяца назад
UCSC Genome Browser: Tracks, tips and tricks
A Capability Approach to Ethics-Based Auditing in Medical AI
Просмотров 803 месяца назад
A Capability Approach to Ethics-Based Auditing in Medical AI
GenomeConnect Webinar: The Importance of Individuals Sharing Health and Genomic Data
Просмотров 1234 месяца назад
GenomeConnect Webinar: The Importance of Individuals Sharing Health and Genomic Data
¿Cómo puedo cargar mi informe de análisis genéticos?
Просмотров 404 месяца назад
¿Cómo puedo cargar mi informe de análisis genéticos?
Why Genetic Ancestry Matters in Gene Mapping & Genetic Discovery: Coronary Artery Disease
Просмотров 2295 месяцев назад
Why Genetic Ancestry Matters in Gene Mapping & Genetic Discovery: Coronary Artery Disease
GenomeConnect: How to Upload Genetic Test Reports
Просмотров 1435 месяцев назад
GenomeConnect: How to Upload Genetic Test Reports
ClinGen-H3Africa - A Global Platform for Curation 2023
Просмотров 1928 месяцев назад
ClinGen-H3Africa - A Global Platform for Curation 2023
Overview of ACMG/AMP v4 Sequence Variant Guidelines
Просмотров 4,2 тыс.9 месяцев назад
Overview of ACMG/AMP v4 Sequence Variant Guidelines
Hello, can you suggest a dataset that I could use to research secondary findings in cerebral small vessel disease?
thanks gyal. very helpfull.
Good afternoon, is HSF free website to use?
Good afternoon Is HSF free website to use? because I search it and the website is not available is it only for apple user?
Thanks!
Great video, thanks.
How was 350 calculated?
sound in this and other ClinGen videos is awful going from too soft to hear to earsplitting loudness repeatedly with no warning. My ears really hurt after listening to this video.
Chat is this real?
Very helpful thank you!
Great lecture. I learned a lot from this video. Thank you very much!
Many thanks for the information
👉 *promo sm*
indel is usually a place-holder term for what can either be an insertion or a deletion. What you described as an indel, seems to be in fact a substitution.
Wonderful presenter with great slides
We need something more basic like this. And build it up to the curation process.
Amazing, clear and succinct, thank you
"Promo sm"
ruclips.net/video/XDp3AK6o8wo/видео.html "Humans beings find it hard to make decisions when the probability is 50%"
Great talk and discussion
For anyone wondering what RUclips link is referenced ~42 minutes into this video: ruclips.net/video/r8UpKVImNcU/видео.html Reservation Dogs aired on the FX channel that can be found on the steaming service, Hulu. Very good.
🫣
How to view the variant in that gene???
What does a “*” mean when associated with a particular gene?
How i can the slides of this presentation?
good video, awful sound quality
very useful info, many thanks
Thank you alotttttttttt Really cleared it out for me 🙏🙏
Is this variants are polymorphisms (snp)?
Proteins being synthesized directly from DNA??? Usually the 2-step process of "protein synthesis" is how proteins are actually synthesized, where DNA is Transcribed to RNA by Polymerase and then RNA is read by Ribosomes to attach amino acids together to THEN form the protein. First time I've heard otherwise but maybe I'm missing something.
We report CNVs without checking for pathogenicity
Is it applicable to malignancies?
Can I upload my nebula genomics genome to the database?
thank you for making genetic testing topic become simple and easy to understand
How to known frequency of gene in this web
Helpful for those who are learning and who are consolidating their knowledge.
Crisp and clear,thank you
Great Video! These videos are great tool for learning.
this is seriously great simple and informative keep up the good work <3
This was amazingly useful and clear. Many thanks. Note- there is a glitch in the video at 35:30
Great voice
it starts at 14:35
Excellent!
I am a 7th grade science teacher and this video is one of the best explanations that I have seen that takes a very complex concept and makes genetics understandable for the average non science human and links it to a real world application. Thank You for putting this together, it is excellent!!
Why is common allele is considered as benign or likely-benign?
Imagine a variant in CFTR has a prevalance of 99.99%, but the disease is 1%. Does it make sense that a variant with 99.99% of the healthy population has this variant even tough the prevalance of the disease is 1%? What if 10% of the population was homozygote for the variant, shouldn't the disease prevalance be at least 10% then?
Can i get slides of this lecture please
The audio appears to be under some kind of automatic level control. When speaking starts, the volume is exceedingly high. After that, the volume drops to where you need to adjust the volume up to a listenable level.
Thank you so much, it's really very useful information
at 20:15, "donor site" means acceptor site?