Januel Louis retweeted
馃毃Months ago @LWGauthier started reinterpretation of >100 rare disease 馃КWES (GRCh37, basic CNV, and no #HPO prioritization) for his MD thesis. Retrospective coding of medical letters was 馃槫馃槹. Here is the solution馃憞馃槑馃憦Bravo #genomics #raredisease @SFMPP_ @gaetan_lesca @drseb_
With @NicoChatron @CHUdeLyon team, we assessed feasibility and risk to use deep learning methods to share clinical data and use it for #PrecisionMedicine.
Januel Louis retweeted
Are you fed up with Southern blot or other traditional techniques for the diagnosis of expansion disorders? If yes, come to see our poster at 1PM about Cas9 target enrochement and nanopore sequencing in progressive myoclonus epilepsy type 1, P10.059.C
Januel Louis retweeted
#ESHG2023 Poster alert 馃毃!
I鈥檒l be presenting our (@CHUdeLyon @AURAGEN2 ) strategy to streamline balanced structural variant interpretation from genome sequencing data at P.17.018.B #cytogenetics #genomics #raredisease
Would love to have feedback and chat 馃挰!
Come !
Januel Louis retweeted
If you want to know how to overcome the challenge of regions with high sequence homology, go to P17.037 and listen to Louis Januel. @LouisJanuel #genetique_lyon @NicoChatron