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.
Hello, can you suggest a dataset that I could use to research secondary findings in cerebral small vessel disease?
@hudaalhajj8017Ай бұрын
thanks gyal. very helpfull.
@candrakirana39592 ай бұрын
Good afternoon, is HSF free website to use?
@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?
@indahpakpahann4 ай бұрын
Thanks!
@teamtitin4 ай бұрын
Great video, thanks.
@himanshugoel34715 ай бұрын
How was 350 calculated?
@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.
@simonlee76385 ай бұрын
Chat is this real?
@starryxblue5 ай бұрын
Very helpful thank you!
@HowardYang-ny5mc9 ай бұрын
Great lecture. I learned a lot from this video. Thank you very much!
@majeedsabbah20679 ай бұрын
Many thanks for the information
@aaronm383111 ай бұрын
👉 *promo sm*
@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 Жыл бұрын
Wonderful presenter with great slides
@terrie001 Жыл бұрын
We need something more basic like this. And build it up to the curation process.
@user-gr9qb1vi1j Жыл бұрын
Amazing, clear and succinct, thank you
@walshhaddock7255 Жыл бұрын
"Promo sm"
@JavierGrana74 Жыл бұрын
kzread.info/dash/bejne/iniklaOEZtKep9I.html "Humans beings find it hard to make decisions when the probability is 50%"
@rosesalman4008 Жыл бұрын
Great talk and discussion
@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 Жыл бұрын
🫣
@vinoann1165 Жыл бұрын
How to view the variant in that gene???
@happyphotoshooter Жыл бұрын
What does a “*” mean when associated with a particular gene?
@MuhammadBilal-mh9cw Жыл бұрын
How i can the slides of this presentation?
@WiktoriaSta Жыл бұрын
good video, awful sound quality
@maryamsediqi3726 Жыл бұрын
very useful info, many thanks
@woah1887 Жыл бұрын
Thank you alotttttttttt Really cleared it out for me 🙏🙏
@monanina5012 Жыл бұрын
Is this variants are polymorphisms (snp)?
@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 Жыл бұрын
We report CNVs without checking for pathogenicity
@AyeshaKhan-ip1kh Жыл бұрын
Is it applicable to malignancies?
@InquilineKea Жыл бұрын
Can I upload my nebula genomics genome to the database?
@inatrintube Жыл бұрын
thank you for making genetic testing topic become simple and easy to understand
@ayadali488 Жыл бұрын
How to known frequency of gene in this web
@okankilic2297 Жыл бұрын
Helpful for those who are learning and who are consolidating their knowledge.
@ashavinay7707 Жыл бұрын
Crisp and clear,thank you
@suhailch99622 жыл бұрын
Great Video! These videos are great tool for learning.
@kingt22292 жыл бұрын
this is seriously great simple and informative keep up the good work <3
@dax20052 жыл бұрын
This was amazingly useful and clear. Many thanks. Note- there is a glitch in the video at 35:30
@lakesutliff68452 жыл бұрын
Great voice
@diogolovato30742 жыл бұрын
it starts at 14:35
@rodrigomendez55942 жыл бұрын
Excellent!
@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-kk1po2 жыл бұрын
Why is common allele is considered as benign or likely-benign?
@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?
@sabahatsabir77482 жыл бұрын
Can i get slides of this lecture please
@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.
@jyothianna86752 жыл бұрын
Thank you so much, it's really very useful information
Пікірлер
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"
kzread.info/dash/bejne/iniklaOEZtKep9I.html "Humans beings find it hard to make decisions when the probability is 50%"
Great talk and discussion
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.
🫣
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?