Prokisch Lab @ProkischLab

OMICs, genetics, mitochondrial diseases and more | tweets by group members Munich, Germany Joined July 2022

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Genetics in Medicine @GIMJournal

7 months ago

RNA sequencing resolved >1/4 of splicing-related VUS in hereditary cancer testing, improving variant classification and potentially enhancing cancer risk management and treatment strategies bit.ly/4jFjXcz #GIMO #RNASequencing #VUS #HereditaryCancer

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Vamsi Mootha @VamsiMootha

9 months ago

Hypoxia in a pill! Chronic, continuous 11% FIO2 suppresses brain pathology in models of mitochondrial disease and aging, but we need practical alternatives. We combine a Hb "left-shifter" with a HIF2a inhibitor to achieve therapeutic hypoxia in mice. jci.org/articles/view/…

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E-mit @Emit38935125

12 months ago

The GENOMIT Consortium is meeting this days in Barcellona (Spain). Different expertise, different skills, different countries: together to shed light on mitochondrial diseases. #MitoAwareness

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gagneurlab @gagneurlab

a year ago

New concept for variant effect prediction. 'How bad' is the new 'how rare'. With DNA LMs we can ask how important a variant is for predicting other bases. This influence score correlates better with functional assays. This was not possible with alignment-based conservation.

Pedro Tomaz da Silva @pedrotomazsilva

a year ago

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Anne O'Donnell-Luria @AnneOtation

a year ago

We explored why pathogenic variants are present in the gnomAD database for early-onset, severe, dominant conditions. Explanations identified for most but some likely due to incomplete penetrance though more study needed. 1/3

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Craig Porter @bioblastgeek

2 years ago

novel perspective suggesting high sustained energy expenditure may be net protective against cancer | Evolution, Medicine, and Public Health | Oxford Academic academic.oup.com/emph/article/1…

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Martin Picard @MitoPsychoBio

2 years ago

High ROS production from mitochondria comes not from high energy expenditure (EE) but from having high capacity and supply and not using it (sitting idle)

Craig Porter @bioblastgeek

2 years ago

High ROS production from mitochondria comes not from high energy expenditure (EE) but from having high capacity and supply and not using it (sitting idle)

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The Journal of Inherited Metabolic Disease @JIMD_Editors

2 years ago

Interesting new review article discussing how the rise in genomic investigations has placed an increased emphasis on the need for variant validation. Integrative -omics provide a complementary approach to better understand genomic findings. doi.org/10.1002/jimd.1…

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Rahul Gupta @rahulg603

3 years ago

Mitochondrial DNA mutations can lead to rare disease and accrue with age. But how does nuclear genome variation influence mtDNA variation? Here in >250k people, we find that nuclear variants can impact variation in the levels of mtDNA mutations. (1/5) medrxiv.org/content/10.110…