Institute of Genomic Statistics & Bioinformatics

Excited about precision medicine achieved by human and artificial intelligence joining efforts! Writing about cutting edge research in that field.

[Institute of Genomic Statistics & Bioinformatics @IGSBteam]

Thank you so much for your great contributions to the #gestaltmatcher database!

[Tika Tkemaladze @TikaTkemaladze]

Thrilled to share my paper in @NatureGenet #WorldView about #rarediseases & challenges we face in resource-limited country. Global collaboration is needed! @RMaroofian @ArndtRolfs @WilhelmFound @UDNIss @SofiaDouzgou @smbanka @AbzianidzeElene @alkuraya @Javanmardi_B @KrawitzPeter

[Institute of Genomic Statistics & Bioinformatics @IGSBteam]

Congrats to @MalleshNanditha and Max Zhao for the smarts and thanks to @leukaemielabor for the data. Knowledge transfer to enhance the performance of deep learning models for automated classification of B cell neoplasms https://t.co/P1fT4VRSwL

[Institute of Genomic Statistics & Bioinformatics @IGSBteam]

What about using #GMDB data for a fair comparison?

[Peter Krawitz @KrawitzPeter]

When you state to exceed the accuracy of a tool that works on many more disorders than yours without mentioning, it's not the whole story, ...

[Institute of Genomic Statistics & Bioinformatics @IGSBteam]

Congrats to Chengyao and Simon on CADA, which is a phenotype-driven gene prioritization that is based on a case-enriched knowledge graph https://t.co/7o7pp3EJXl

[Institute of Genomic Statistics & Bioinformatics @IGSBteam]

prostate cancer

[Institute of Genomic Statistics & Bioinformatics @IGSBteam]

Breast and prostate cancer risk: the interplay of polygenic risk, high-impact monogenic variants, and family history https://t.co/5BO6ZnGdQc

[Institute of Genomic Statistics & Bioinformatics @IGSBteam]

We are looking forward to adding new results to our talks in August! In the meantime we would like to share these teasers from Emad and Tzung:
https://t.co/fIpr1oDpLI
https://t.co/M5eRMs9cwp

[Institute of Genomic Statistics & Bioinformatics @IGSBteam]

breast cancer

[Institute of Genomic Statistics & Bioinformatics @IGSBteam]

We are looking forward to adding new results to our talks in August! In the meantime we would like to share these teasers from Emad and Tzung:
https://t.co/fIpr1oDpLI
https://t.co/M5eRMs9cwp

[European Society of Human Genetics (ESHG) @eshgsociety]

We regret to announce that due to severe technical issues with the virtual platform brought to our attention this week, the ESHG is forced to postpone #eshg2021 to August 28-31.
We share your disappointment and sincerely apologise for the inconvenience https://t.co/GmWRCVLvD7

[Institute of Genomic Statistics & Bioinformatics @IGSBteam]

With #TransferLearning @MalleshNanditha helps you to stand on the shoulder of giants (data from @leukaemielabor): https://t.co/qlyciISv4N If you are also into #flowcytometry, we would be happy to collaborate!

[Institute of Genomic Statistics & Bioinformatics @IGSBteam]

Every (=Cada) solved case counts! This is true in so many respects. Also, when it comes to phenotype-driven gene prioritization. Peng, et al describe how #ClinVar cases improve phenotype-driven gene prioritization:
https://t.co/9kzmRS8oVh

[Institute of Genomic Statistics & Bioinformatics @IGSBteam]

The dysmorphic facial features of the #DDX6 phenotype, reported by Balak, et al. could also be matched by #GestaltMatcher
https://t.co/iiFPbKJm4g @LalDennis @Open_Chromatin @Sumaiyalqbal

[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

[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

[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

[Miguel Rodríguez de los Santos @RodrigMig]

I am happy to announce that our work on our mouse model for GPI anchor deficiency is out in #PNAS: https://t.co/2PEimJVA40
If you are interested in a small summary, please scroll down (1/10). #GPIBD #Synaptopathy #DiseaseModeling

[Institute of Genomic Statistics & Bioinformatics @IGSBteam]

Interested? Then have a look at our results: https://t.co/GGrnA7dvdD

[Institute of Genomic Statistics & Bioinformatics @IGSBteam]

How do mating schemes affect the prevalence of recessive disorders in growing populations? There's fewer recessive disorders but greater mutational load during and after the growth phase for random mating. In the consanguineous, both parameters are hardly affected by growth.

[Institute of Genomic Statistics & Bioinformatics @IGSBteam]

Prevention is better than cure. At IGSB, we're working on risk assessments based on modeling polygenic disorders, #PRS. In collaboration with @Mymegeno, we aim to make these results available to everyone who's interested.

[Institute of Genomic Statistics & Bioinformatics @IGSBteam]

#GutBrainaxis Did you know you have 3 brains? Your head, your heart, your gut. Can our daily diet decide how we behave? At IGSB, we try to find out how our diets affect our decision making. Stay tuned !

[Institute of Genomic Statistics & Bioinformatics @IGSBteam]

#GestaltMatcher: Could CNNs reconcile lumpers and splitters in genetics? We train our classifiers based on gene-specific labels (splitters approach), but as soon as we have a working network, we are able to perform similarity analysis (lumpers approach)

[Institute of Genomic Statistics & Bioinformatics @IGSBteam]

A hot topic in our lab: When is the right time to return to physical lab meetings? Although #Bioinformatics is great for #remotework, we can't wait to get back our inspiring lunch break conversations. Let us know what you do and don't miss! #AcademicChatter #COVID19