ClinGen Resource

ClinGen Resource

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.

NCBI Datasets

NCBI Datasets

Gene Curation SOP Updates

Gene Curation SOP Updates

Retina GCEP Updates

Retina GCEP Updates

GnomAD v4. overview

GnomAD v4. overview

gnomAD v4. Q&A

gnomAD v4. Q&A

Gene Curation Q&A

Gene Curation Q&A

AI Bias in Medicine

AI Bias in Medicine

Пікірлер

  • @khanyap
    @khanyap29 күн бұрын

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

  • @hudaalhajj8017
    @hudaalhajj8017Ай бұрын

    thanks gyal. very helpfull.

  • @candrakirana3959
    @candrakirana39592 ай бұрын

    Good afternoon, is HSF free website to use?

  • @candrakirana3959
    @candrakirana39592 ай бұрын

    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
    @indahpakpahann4 ай бұрын

    Thanks!

  • @teamtitin
    @teamtitin4 ай бұрын

    Great video, thanks.

  • @himanshugoel3471
    @himanshugoel34715 ай бұрын

    How was 350 calculated?

  • @SLiebmanGeneticTesting-SCA-DCM
    @SLiebmanGeneticTesting-SCA-DCM5 ай бұрын

    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
    @simonlee76385 ай бұрын

    Chat is this real?

  • @starryxblue
    @starryxblue5 ай бұрын

    Very helpful thank you!

  • @HowardYang-ny5mc
    @HowardYang-ny5mc9 ай бұрын

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

  • @majeedsabbah2067
    @majeedsabbah20679 ай бұрын

    Many thanks for the information

  • @aaronm3831
    @aaronm383111 ай бұрын

    👉 *promo sm*

  • @VPolecat
    @VPolecat Жыл бұрын

    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.

  • @user-pp9jp5wl4c
    @user-pp9jp5wl4c Жыл бұрын

    Wonderful presenter with great slides

  • @terrie001
    @terrie001 Жыл бұрын

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

  • @user-gr9qb1vi1j
    @user-gr9qb1vi1j Жыл бұрын

    Amazing, clear and succinct, thank you

  • @walshhaddock7255
    @walshhaddock7255 Жыл бұрын

    "Promo sm"

  • @JavierGrana74
    @JavierGrana74 Жыл бұрын

    kzread.info/dash/bejne/iniklaOEZtKep9I.html "Humans beings find it hard to make decisions when the probability is 50%"

  • @rosesalman4008
    @rosesalman4008 Жыл бұрын

    Great talk and discussion

  • @jenniferleonhard9701
    @jenniferleonhard9701 Жыл бұрын

    For anyone wondering what KZread link is referenced ~42 minutes into this video: kzread.info/dash/bejne/pGyJ0q2PedC0k7g.html Reservation Dogs aired on the FX channel that can be found on the steaming service, Hulu. Very good.

  • @michellelombardo8509
    @michellelombardo8509 Жыл бұрын

    🫣

  • @vinoann1165
    @vinoann1165 Жыл бұрын

    How to view the variant in that gene???

  • @happyphotoshooter
    @happyphotoshooter Жыл бұрын

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

  • @MuhammadBilal-mh9cw
    @MuhammadBilal-mh9cw Жыл бұрын

    How i can the slides of this presentation?

  • @WiktoriaSta
    @WiktoriaSta Жыл бұрын

    good video, awful sound quality

  • @maryamsediqi3726
    @maryamsediqi3726 Жыл бұрын

    very useful info, many thanks

  • @woah1887
    @woah1887 Жыл бұрын

    Thank you alotttttttttt Really cleared it out for me 🙏🙏

  • @monanina5012
    @monanina5012 Жыл бұрын

    Is this variants are polymorphisms (snp)?

  • @israelaispuro1483
    @israelaispuro1483 Жыл бұрын

    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 Жыл бұрын

    We report CNVs without checking for pathogenicity

  • @AyeshaKhan-ip1kh
    @AyeshaKhan-ip1kh Жыл бұрын

    Is it applicable to malignancies?

  • @InquilineKea
    @InquilineKea Жыл бұрын

    Can I upload my nebula genomics genome to the database?

  • @inatrintube
    @inatrintube Жыл бұрын

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

  • @ayadali488
    @ayadali488 Жыл бұрын

    How to known frequency of gene in this web

  • @okankilic2297
    @okankilic2297 Жыл бұрын

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

  • @ashavinay7707
    @ashavinay7707 Жыл бұрын

    Crisp and clear,thank you

  • @suhailch9962
    @suhailch99622 жыл бұрын

    Great Video! These videos are great tool for learning.

  • @kingt2229
    @kingt22292 жыл бұрын

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

  • @dax2005
    @dax20052 жыл бұрын

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

  • @lakesutliff6845
    @lakesutliff68452 жыл бұрын

    Great voice

  • @diogolovato3074
    @diogolovato30742 жыл бұрын

    it starts at 14:35

  • @rodrigomendez5594
    @rodrigomendez55942 жыл бұрын

    Excellent!

  • @mandizaborowski2900
    @mandizaborowski29002 жыл бұрын

    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!!

  • @meimei-kk1po
    @meimei-kk1po2 жыл бұрын

    Why is common allele is considered as benign or likely-benign?

  • @muffinman1
    @muffinman12 жыл бұрын

    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?

  • @sabahatsabir7748
    @sabahatsabir77482 жыл бұрын

    Can i get slides of this lecture please

  • @mthgoo
    @mthgoo2 жыл бұрын

    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.

  • @jyothianna8675
    @jyothianna86752 жыл бұрын

    Thank you so much, it's really very useful information

  • @moongihong2794
    @moongihong27942 жыл бұрын

    at 20:15, "donor site" means acceptor site?