The PEDIA Team

Prioritizing Exome Data by Image Analysis. Institute of Medical Genetics and Human Genetics of the Charité, Berlin, and IGSB Bonn.

[Institute of Genomic Statistics & Bioinformatics @IGSBteam]

congrats to @alkuraya and team, who linked a novel facial dysmorphism to #TMEM94. https://t.co/yuatBNSDLc Noteworthy: affected individuals of all 6 families could also have been matched by #GestaltMatcher

[Institute of Genomic Statistics & Bioinformatics @IGSBteam]

#GestaltMatcher is now in review. Plz contact @thsieh_tw if you need technical support with dysmorphic similarity scores for your own papers. https://t.co/DIf4urwjj4

[Peter Krawitz @KrawitzPeter]

#GestaltMatcher is more than just #DeepGestalt 2.0 . It's the next generation of phenotyping. Again.

[The PEDIA Team @Pedia_Team]

It is worth clicking through the videos - very interesting approaches! We are delighted to present our project as well 🧒2⃣🧬 #futuremed20 #berlinscienceweek

[The PEDIA Team @Pedia_Team]

Not enough time to read? Dr. Martin Atta Mensah explains the main points of the paper in just three minutes - if you like it, give us a five-star rating! https://t.co/E5qp416JBK #MachineLearning #FutureMedicine
@ScienceMatch

[The PEDIA Team @Pedia_Team]

Looking for some useful tips on how to interpret #Face2Gene's suggestions? Check out our new paper systematically evaluating #DeepGestalt's performance!
https://t.co/KU7dtyqoHV

[JMIR Publications @jmirpub]

New in JMIR: Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy #Study https://t.co/r34mWxrCjj

[The PEDIA Team @Pedia_Team]

@fdna @nicolefleischer @malte_spielmann @jeantoripantel

[Peter Krawitz @KrawitzPeter]

PEDIA — More power to face recognition tech in disease diagnosis by TheSNPingTool https://t.co/pVEbZs5n0z

[The PEDIA Team @Pedia_Team]

We recommend a poster for the last minutes of the poster viewing session:

P16.28.A - Testing and improving DeepGestalt’s discriminatory power on photographs of individuals with and without a genetic syndrome

https://t.co/P8mZw57mny
#ESHG2020

[Jes Adams @jes_adams5]

Bioinformaticians love memes 👏🏼 @thsieh_tw #eshg2020

[The PEDIA Team @Pedia_Team]

Fill the waiting time until #ESHG2020 is online again!

[Peter Krawitz @KrawitzPeter]

back up on youtube: https://t.co/tmkL9yXamm

[Peter Krawitz @KrawitzPeter]

back up on youtube: https://t.co/tmkL9yXamm

[The PEDIA Team @Pedia_Team]

I think this clip https://t.co/w3Nwh1Lmdy suggests that 0 cannot be the right answer. Otherwise no steady state could be reached, as affected removing from the gene pool is the only option to counteract de novo mutations

[Peter Krawitz @KrawitzPeter]

Everyone who liked the #montyhallproblem #ziegenproblem will love this one from genetics: In a population that is in a mutational steady state, how much higher is the #MutationLoad of an individual that is affected by a recessive disease compared to the average?

[The PEDIA Team @Pedia_Team]

#beatthemachine!

[Peter Krawitz @KrawitzPeter]

Unsure? Check https://t.co/yulFTGYHXm

[The PEDIA Team @Pedia_Team]

#beatthemachine!

[Peter Robinson @pnrobins]

Can you beat the machine? Fascinating study that used ML to find M/F differences in the retina that ophthalmologists never noticed
https://t.co/lDdxNsEyCv

[The PEDIA Team @Pedia_Team]

@KrawitzPeter #gestaltmatcher will soon be a service at #face2gene that will also be accessible via Genetalk. If you would like to learn more about how to include your patients let us know.

[The PEDIA Team @Pedia_Team]

Please join Tzung's talk to learn what framework we set up to find the second patient of a kind.

[The PEDIA Team @Pedia_Team]

Please join Tzung's talk to learn what framework we set up to find the second patient of a kind.

[The PEDIA Team @Pedia_Team]

@KrawitzPeter @HeidiBBentzen Are you bored in your session? Think about switching to C22.6 at 14:15 in H2