ClinGen Resource
ClinGen Resource
  • Видео 288
  • Просмотров 348 789
How to Upload a Genetic Testing Report
An important part of participating in GenomeConnect is sharing your genetic test report. This short video explains how to upload your report to GenomeConnect.
If you have questions, please contact the GenomeConnect team at info@genomeconnect.org. Our team can also be reached by phone at 570-214-1721​ (toll free 855-322-7683​).
Просмотров: 3

Видео

GenomeConnect Webinar- How to Track a Gene in ClinGen
Просмотров 134День назад
Learn about candidate genes and the efforts made by ClinGen to better understand the relationship between genes and health. During this webinar, ClinGen's Danielle Azzariti will review how to search ClinGen and how to track genes in ClinGen to stay updated on its relationship to health and disease. Register for GenomeConnect at: GenomeConnect.org Learn more about GenomeConnect at: clinicalgenom...
Ethics & Inclusivity in Genetics Education: Challenges and Paths Forward
Просмотров 7921 день назад
Despite the profound impacts of scientific research, few scientists have received the necessary training to productively discuss the ethical and societal implications of their work. This forum will provide an overview of efforts to understand and address this critical gap. If Human Genetics is to rectify the inequities and injustices produced by the field, its members must first learn to view t...
Overview/Updates on the Actionability Working Group
Просмотров 124Месяц назад
In this video, Marian Gilmore provides an overview/updates on the Actionability Working Group. Presenters: Marian Gilmore Recorded on: October 24, 2024 by the ClinGen Biocurator WG
GenomeConnect and ClinVar Webinar
Просмотров 383Месяц назад
GenomeConnect hosts a webinar about National Center for Biotechnology Information's ClinVar. ClinVar is a public, submitter driven database used by researchers, clinicians, and laboratories. GenomeConnect submits de-identified genetic and health data to ClinVar. During this webinar, ClinVar's Melissa Landrum will review how to search ClinVar and how to track variants in the database followed by...
ClinGen Curation of ClinVar Project
Просмотров 197Месяц назад
In this video, Heidi Rehm gives a talk on the ClinGen Curation of ClinVar (CVC) Project. Presenters: Heidi L. Rehm, Ph.D. FACMG Recorded on: October 9, 2024 by the ClinGen Biocurator WG Slides: drive.google.com/file/d/1hm_WFUsBEwXUZ0Ypi1SH9uhnNo29uBAe/view?usp=sharing
Defining Sex: The Mis/Use of Genomics and the Law
Просмотров 145Месяц назад
The law accords rights “on the basis of sex.” In order to do so, the law has to define what “sex” is and what it means. In recent years, dozens of laws proposed and passed define sex as binary, determined, and identifiable by chromosomes. This forum will examine the use of biological explanations in contemporary laws defining sex in order to contrast biology as a process of study and discovery ...
GA4GH Variant Representation Specification (VRS)
Просмотров 1982 месяца назад
In this video, Larry Babb and Alex Wagner presents a talk on the GA4GH Variant Representation Specification (VRS) and implementation of VRS in ClinGen. Presenters: Larry Babb; Alex Wagner, PhD Recorded on: September 26th, 2024 by the ClinGen Biocurator WG
Gene Curation SOP v11 and GCI updates
Просмотров 2212 месяца назад
In this video, Courtney Thaxton and B. Mónica Bowen from the Gene Curation Working Group (GCWG) presents on the updates in the gene curation SOP v11 and the Gene Curation Interface (GCI). Presenters: Courtney Thaxton, Ph.D.; B. Mónica Bowen, Ph.D. Recorded on: September 11, 2024 by the ClinGen Biocurator WG
Advancing Sexual & Gender Minority Research at the NIH & Beyond
Просмотров 4633 месяца назад
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...
GenomeConnect Feature on ClinGen Website
Просмотров 1424 месяца назад
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
Просмотров 1084 месяца назад
"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
Просмотров 1444 месяца назад
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
Просмотров 1824 месяца назад
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
Просмотров 2914 месяца 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 2885 месяцев назад
Pharmacogenomics (PGx) Working Group Overview
GenomeConnect Webinar: GenomeConnect and the Brain Gene Registry
Просмотров 1165 месяцев назад
GenomeConnect Webinar: GenomeConnect and the Brain Gene Registry
ClinGen Clinical Genomics Career Panel Series 2024 - Genetic Counselors
Просмотров 2225 месяцев назад
ClinGen Clinical Genomics Career Panel Series 2024 - Genetic Counselors
ClinGen Clinical Genomics Career Panel Series 2024 - LGBTQIA+ Career in Genetics Webinar
Просмотров 895 месяцев назад
ClinGen Clinical Genomics Career Panel Series 2024 - LGBTQIA Career in Genetics Webinar
Overview/Updates on the Hemostasis/Thrombosis GCEP
Просмотров 1325 месяцев назад
Overview/Updates on the Hemostasis/Thrombosis GCEP
Overview of the Somatic Cancer CDWG VCEPs and taskforces
Просмотров 1766 месяцев назад
Overview of the Somatic Cancer CDWG VCEPs and taskforces
Genetic Ancestry: Algorithms and Applications
Просмотров 2276 месяцев назад
Genetic Ancestry: Algorithms and Applications
GenomeConnect Webinar: How to Read a Genetic Testing Report
Просмотров 7977 месяцев назад
GenomeConnect Webinar: How to Read a Genetic Testing Report
NCBI Datasets
Просмотров 2137 месяцев назад
NCBI Datasets
All of Us Research Project
Просмотров 2297 месяцев назад
All of Us Research Project
Overview of the Dosage Sensitivity Working Group
Просмотров 1837 месяцев назад
Overview of the Dosage Sensitivity Working Group
Gene Curation SOP Updates
Просмотров 2267 месяцев назад
Gene Curation SOP Updates
Retina GCEP Updates
Просмотров 1517 месяцев назад
Retina GCEP Updates
ClinGen Biocurator Working Group 2023 End of Year Wrap-up
Просмотров 1957 месяцев назад
ClinGen Biocurator Working Group 2023 End of Year Wrap-up
GnomAD v4. overview
Просмотров 1,1 тыс.7 месяцев назад
GnomAD v4. overview

Комментарии

  • @solehahazwan3100
    @solehahazwan3100 Месяц назад

    Ensembl VEP 36:18 - 49:09 .. Thanks for the lecture 👍🏻

  • @mmdeguti2509
    @mmdeguti2509 Месяц назад

    Very clear and didatic explanation, thank you.

  • @chaotichammer2
    @chaotichammer2 Месяц назад

    Narrative is great, thanks!

  • @debasreedas6035
    @debasreedas6035 2 месяца назад

    Can you explain this "IVS22+1 G>T"?

  • @ashaoluayanfe7474
    @ashaoluayanfe7474 2 месяца назад

    This is the best I've watched, thank you

  • @khanyap
    @khanyap 5 месяцев назад

    Hello, can you suggest a dataset that I could use to research secondary findings in cerebral small vessel disease?

  • @hudaalhajj8017
    @hudaalhajj8017 6 месяцев назад

    thanks gyal. very helpfull.

  • @candrakirana3959
    @candrakirana3959 7 месяцев назад

    Good afternoon, is HSF free website to use?

  • @candrakirana3959
    @candrakirana3959 7 месяцев назад

    Good afternoon Is HSF free website to use? because I search it and the website is not available is it only for apple user?

  • @indahpakpahann
    @indahpakpahann 9 месяцев назад

    Thanks!

  • @teamtitin
    @teamtitin 9 месяцев назад

    Great video, thanks.

  • @himanshugoel3471
    @himanshugoel3471 10 месяцев назад

    How was 350 calculated?

  • @SLiebmanGeneticTesting-SCA-DCM
    @SLiebmanGeneticTesting-SCA-DCM 10 месяцев назад

    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.

  • @simonlee7638
    @simonlee7638 10 месяцев назад

    Chat is this real?

  • @starryxblue
    @starryxblue 10 месяцев назад

    Very helpful thank you!

  • @HowardYang-ny5mc
    @HowardYang-ny5mc Год назад

    Great lecture. I learned a lot from this video. Thank you very much!

  • @majeedsabbah2067
    @majeedsabbah2067 Год назад

    Many thanks for the information

  • @aaronm3831
    @aaronm3831 Год назад

    👉 *promo sm*

  • @VPolecat
    @VPolecat Год назад

    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.

  • @ValentineHyland
    @ValentineHyland Год назад

    Wonderful presenter with great slides

  • @terrie001
    @terrie001 Год назад

    We need something more basic like this. And build it up to the curation process.

  • @Guillaume-r6h
    @Guillaume-r6h Год назад

    Amazing, clear and succinct, thank you

  • @walshhaddock7255
    @walshhaddock7255 Год назад

    "Promo sm"

  • @JavierGrana74
    @JavierGrana74 Год назад

    ruclips.net/video/XDp3AK6o8wo/видео.html "Humans beings find it hard to make decisions when the probability is 50%"

  • @rosesalman4008
    @rosesalman4008 Год назад

    Great talk and discussion

  • @jenniferleonhard9701
    @jenniferleonhard9701 Год назад

    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.

  • @michellelombardo8509
    @michellelombardo8509 Год назад

    🫣

  • @vinoann1165
    @vinoann1165 Год назад

    How to view the variant in that gene???

  • @happyphotoshooter
    @happyphotoshooter Год назад

    What does a “*” mean when associated with a particular gene?

  • @MuhammadBilal-mh9cw
    @MuhammadBilal-mh9cw Год назад

    How i can the slides of this presentation?

  • @WiktoriaSta
    @WiktoriaSta Год назад

    good video, awful sound quality

  • @maryamsediqi3726
    @maryamsediqi3726 Год назад

    very useful info, many thanks

  • @woah1887
    @woah1887 Год назад

    Thank you alotttttttttt Really cleared it out for me 🙏🙏

  • @monanina5012
    @monanina5012 Год назад

    Is this variants are polymorphisms (snp)?

  • @israelaispuro1483
    @israelaispuro1483 2 года назад

    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.

  • @AyeshaKhan-ip1kh
    @AyeshaKhan-ip1kh 2 года назад

    We report CNVs without checking for pathogenicity

  • @AyeshaKhan-ip1kh
    @AyeshaKhan-ip1kh 2 года назад

    Is it applicable to malignancies?

  • @InquilineKea
    @InquilineKea 2 года назад

    Can I upload my nebula genomics genome to the database?

  • @inatrintube
    @inatrintube 2 года назад

    thank you for making genetic testing topic become simple and easy to understand

  • @ayadali488
    @ayadali488 2 года назад

    How to known frequency of gene in this web

  • @okankilic2297
    @okankilic2297 2 года назад

    Helpful for those who are learning and who are consolidating their knowledge.

  • @ashavinay7707
    @ashavinay7707 2 года назад

    Crisp and clear,thank you

  • @suhailch9962
    @suhailch9962 2 года назад

    Great Video! These videos are great tool for learning.

  • @kingt2229
    @kingt2229 2 года назад

    this is seriously great simple and informative keep up the good work <3

  • @dax2005
    @dax2005 2 года назад

    This was amazingly useful and clear. Many thanks. Note- there is a glitch in the video at 35:30

  • @lake1317
    @lake1317 2 года назад

    Great voice

  • @diogolovato3074
    @diogolovato3074 2 года назад

    it starts at 14:35

  • @rodrigomendez5594
    @rodrigomendez5594 2 года назад

    Excellent!

  • @mandizaborowski2900
    @mandizaborowski2900 2 года назад

    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!!