Marios Georgakis (@mariosgeorgakis) 's Twitter Profile
Marios Georgakis

@mariosgeorgakis

clinician-scientist | genetics, omics, precision medicine, atherosclerosis, stroke | Emmy Noether group leader @LMU_Muenchen
Visiting scientist @broadinstitute

ID: 1031224187644469248

linkhttp://georgakis-lab.isd-muc.de/ calendar_today19-08-2018 16:59:40

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Marios Georgakis (@mariosgeorgakis) 's Twitter Profile Photo
Marios Georgakis
@mariosgeorgakis

2 months ago

1/3 of disease-causing variants are estimated to alter gene splicing🧬 👉Important effort to sum published data of experimental splicing validation 👉50,000 variants in 8,000 genes 📊Database: SpliceVarDB compbio.ccia.org.au/splicevardb/ 📰Paper: cell.com/ajhg/fulltext/… AJHG

1/3 of disease-causing variants are estimated to alter gene splicing🧬 👉Important effort to sum published data of experimental splicing validation 👉50,000 variants in 8,000 genes 📊Database: SpliceVarDB compbio.ccia.org.au/splicevardb/ 📰Paper: cell.com/ajhg/fulltext/… <a href="/AJHGNews/">AJHG</a>