Discover and read the best of Twitter Threads about #gwa
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#WeekendLecture
#GeneticsAndStroke
#Genetics is involved in several #stroke related conditions, such as small vessel disease #SVD, aneurysms, dissections, cavernomas, and intracranial #hemorrhages
Check this 🧵!
Prepared by @J_Rosales_MD
Edited by @interneurona
#GeneticsAndStroke
#Genetics is involved in several #stroke related conditions, such as small vessel disease #SVD, aneurysms, dissections, cavernomas, and intracranial #hemorrhages
Check this 🧵!
Prepared by @J_Rosales_MD
Edited by @interneurona
#Weekendlecture
#Genetic & #SVD
🧬🧠
✅1,5% of cerebral #SVD are #monogenic disorders
✅AR, AD or X-linked
☝🏼Absence of family history doesn't rule out diagnosis because of
👉de novo mutation
👉reduced expression or
👉incomplete penetrance
✅ahajournals.org/doi/10.1161/ST…
#Genetic & #SVD
🧬🧠
✅1,5% of cerebral #SVD are #monogenic disorders
✅AR, AD or X-linked
☝🏼Absence of family history doesn't rule out diagnosis because of
👉de novo mutation
👉reduced expression or
👉incomplete penetrance
✅ahajournals.org/doi/10.1161/ST…
#Weekendlecture
#Genetic & #SVD
When to #suspect?🕵️♀️
✅early onset stroke without vascular RFs
✅systemic features and neuroimaging of an specific monogenic disorder
✅consanguinity
✅negative work up for other causes of SVD
👉ahajournals.org/doi/10.1161/ST…
#Genetic & #SVD
When to #suspect?🕵️♀️
✅early onset stroke without vascular RFs
✅systemic features and neuroimaging of an specific monogenic disorder
✅consanguinity
✅negative work up for other causes of SVD
👉ahajournals.org/doi/10.1161/ST…
1/13 While #COVID19 warrants our attention and swift, concerted action, we cannot forget about the existing high global burden diseases like #tuberculosis.
2/13 In ”Exact mapping of Illumina blind spots in the Mycobacterium tuberculosis genome reveals platform-wide and workflow-specific biases” preview.tinyurl.com/vyhckyc, @crobinhold1 @Valafarlab & I provide a roadmap for navigating #Illumina coverage bias when #sequencing Mtb #genomes
3/13 We use a #phylogenomic filtering step to remove evolutionary signals isolating systematically low coverage and provide lists of #Illumina #blindspots for seven #sequencing workflows (lib prep + instrument) at single-base resolution
