Institute of Genomic Statistics & Bioinformatics @IGSBteam
Excited about precision medicine achieved by human and artificial intelligence joining efforts! Writing about cutting edge research in that field. Joined June 2020-
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Thank you so much for your great contributions to the #gestaltmatcher database!
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
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 cell.com/patterns/fullt…
What about using #GMDB data for a fair comparison?
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, ...
Congrats to Chengyao and Simon on CADA, which is a phenotype-driven gene prioritization that is based on a case-enriched knowledge graph academic.oup.com/nargab/article…
prostate cancer
breast cancer
Breast and prostate cancer risk: the interplay of polygenic risk, high-impact monogenic variants, and family history medrxiv.org/content/10.110…
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: youtu.be/N5oy8Lv5v2E youtu.be/psPzh4vi2q0
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: youtu.be/N5oy8Lv5v2E youtu.be/psPzh4vi2q0
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 bit.ly/3vAm481
With #TransferLearning @MalleshNanditha helps you to stand on the shoulder of giants (data from @leukaemielabor): medrxiv.org/content/10.110… If you are also into #flowcytometry, we would be happy to collaborate!
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: medrxiv.org/content/10.110…
The dysmorphic facial features of the #DDX6 phenotype, reported by Balak, et al. could also be matched by #GestaltMatcher cell.com/ajhg/fulltext/… @LalDennis @Open_Chromatin @Sumaiyalqbal
#GestaltMatcher is now in review. Plz contact @thsieh_tw if you need technical support with dysmorphic similarity scores for your own papers. medrxiv.org/content/10.110…
congrats to @alkuraya and team, who linked a novel facial dysmorphism to #TMEM94. cell.com/ajhg/fulltext/… Noteworthy: affected individuals of all 6 families could also have been matched by #GestaltMatcher
#GestaltMatcher is now in review. Plz contact @thsieh_tw if you need technical support with dysmorphic similarity scores for your own papers. medrxiv.org/content/10.110…
#GestaltMatcher is now in review. Plz contact @thsieh_tw if you need technical support with dysmorphic similarity scores for your own papers. medrxiv.org/content/10.110…
I am happy to announce that our work on our mouse model for GPI anchor deficiency is out in #PNAS: bit.ly/3nqcOP7 If you are interested in a small summary, please scroll down (1/10). #GPIBD #Synaptopathy #DiseaseModeling
Interested? Then have a look at our results: youtube.com/watch?v=5hOgLy…
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.
#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 !
#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)
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
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