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ClinGen Resource
United States
Registrace 12. 03. 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.
Advancing Sexual & Gender Minority Research at the NIH & Beyond
This Forum will provide an overview of sexual and gender minority research activities across the National Institutes of Health. The session will begin with an introduction to key terms and constructs related to sex and gender and will also highlight some tips for gender-based communications. Dr. Parker will delve into the development and responsibilities of the Sexual & Gender Minority Research Office, the NIH SGM Research Strategic Plan, and the NIH SGM grants portfolio. Attendees will also receive an overview of the current challenges surrounding sexual orientation, gender identity, and sex characteristics (SOGISC) data collection and inclusivity of LGBTQI+ people in the health science research and STEM workforces.
zhlédnutí: 18
Video
GenomeConnect Feature on ClinGen Website
zhlédnutí 45Před 21 hodinou
Review new features added to clinicalgenome.org in April 2024. Now the gene search feature on ClinGen's website will display if GenomeConnect has case level data available for any variants in that gene.
ClinGen Clinical Genomics Career Panel 2024 - Stepping Stone Opportunities
zhlédnutí 61Před 14 dny
"Stepping stone" career opportunities include roles that help individuals gain experience and knowledge before further education and jobs (e.g., genetic counseling assistant, biocurator, etc.). During this 2024 webinar, a panel of individuals who currently or previously held these types of positions will discuss their experiences and the benefits of such opportunities.
ClinGen Clinical Genomics Career Panel 2024 - Research, Development, & Other Opportunities
zhlédnutí 99Před 14 dny
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.
ClinGen Clinical Genomics Career Panel 2024 - Physician Clinicians
zhlédnutí 150Před 28 dny
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.
ClinGen Clinical Genomics Career Panel 2024 - Clinical Laboratory Opportunities
zhlédnutí 216Před měsícem
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
zhlédnutí 167Před měsícem
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
zhlédnutí 73Před měsícem
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
zhlédnutí 174Před měsícem
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
zhlédnutí 51Před měsícem
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
zhlédnutí 114Před měsícem
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
zhlédnutí 141Před 2 měsíci
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
zhlédnutí 160Před 2 měsíci
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
zhlédnutí 507Před 3 měsíci
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
zhlédnutí 161Před 3 měsíci
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
Overview of the Dosage Sensitivity Working Group
zhlédnutí 140Před 3 měsíci
Overview of the Dosage Sensitivity Working Group
ClinGen Biocurator Working Group 2023 End of Year Wrap-up
zhlédnutí 176Před 3 měsíci
ClinGen Biocurator Working Group 2023 End of Year Wrap-up
UCSC Genome Browser: Tracks, tips and tricks
zhlédnutí 359Před 3 měsíci
UCSC Genome Browser: Tracks, tips and tricks
A Capability Approach to Ethics-Based Auditing in Medical AI
zhlédnutí 80Před 4 měsíci
A Capability Approach to Ethics-Based Auditing in Medical AI
GenomeConnect Webinar: The Importance of Individuals Sharing Health and Genomic Data
zhlédnutí 124Před 5 měsíci
GenomeConnect Webinar: The Importance of Individuals Sharing Health and Genomic Data
¿Cómo puedo cargar mi informe de análisis genéticos?
zhlédnutí 40Před 5 měsíci
¿Cómo puedo cargar mi informe de análisis genéticos?
Why Genetic Ancestry Matters in Gene Mapping & Genetic Discovery: Coronary Artery Disease
zhlédnutí 231Před 6 měsíci
Why Genetic Ancestry Matters in Gene Mapping & Genetic Discovery: Coronary Artery Disease
GenomeConnect: How to Upload Genetic Test Reports
zhlédnutí 155Před 6 měsíci
GenomeConnect: How to Upload Genetic Test Reports
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"
czcams.com/video/XDp3AK6o8wo/video.html "Humans beings find it hard to make decisions when the probability is 50%"
Great talk and discussion
For anyone wondering what CZcams link is referenced ~42 minutes into this video: czcams.com/video/r8UpKVImNcU/video.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?