Gerome Breen

Prof Psych Genetics (he/him) @KingsIoPPN NIHR MH BioResource. PI @edgi_uk, @GLADStudy, @covidcns. Gratitude: my wonderful TNG, Biobank groups @SGDPcentreKCL

[Gerome Breen @psychgenomics]

GLAD is now >30,000 volunteers. Thanks to all of our participants, supporters, and all the researchers who have helped with recruitment in >200 clinical sites! If you have ever experienced depression or anxiety. @GLADStudy @NIHRBioResource @NIHRMaudsleyBRC

[GLADStudy @GLADStudy]

We would like to say a huge thank you to all of our participants who have taken the time to participate in the #GLADStudy and return their saliva kits!

If you haven’t taken part yet and would like to you, you can sign up for the #GLAD Study at https://t.co/nE4SX9E97V

[Sherif Gerges @SherifMorris]

A major challenge in genetics is interpreting missense variants. Unlike PTVs, they can be benign or damaging. Excited to share our work, led by Hilary Finucane and Emily Nason, where we tackle this. Below is a Manhattan plot of missense clustering in protein structure in ClinVar

[Gerome Breen @psychgenomics]

Used their amino caller with 22 E coli proteins, digested and sequenced them. Also have done protein barcoding - 1000 protein barcodes to train and tested 3 pools of 1000 barcoded proteins and it works. Shows how it can also resolve phosphorylation. #Nanoporeconf

[Gerome Breen @psychgenomics]

Now Jayne Wallace on protein sequencing - there are >1 million different proteins and they can be sequenced, along with their mdoifications. Two approaches: digested peptide and whole protein - the former will be talked about today. #Nanoporeconf

[Gerome Breen @psychgenomics]

Uses a strat with DNA adapters on either end of a peptide - the same customised pore does both DNA and protein (allows barcoding). Now have sequenced 150K - moving from classifiers to amino calling. #Nanoporeconf

[Gerome Breen @psychgenomics]

Working across the workflow to reduce need for input material. Mentioning now the ability to detect and different enantiomers of the same molecule. #Nanoporeconf

[Gerome Breen @psychgenomics]

Mark Bruce now talking about new nanopore designs - new candidate nanopore with ~10 high consensus Q. New motor proteins could mean >250GB form a single flow, and 100GB in 24 hours. #Nanoporeconf

[Gerome Breen @psychgenomics]

Want to get consisent performance and throughput across sample types and from 1 hr to last hr of runtime. #Nanoporeconf

[Gerome Breen @psychgenomics]

Lakmal Jayasinghe just showed data from 1 flowcell where genomic DNA and CDNA was sequenced at the same time to solve a case. #Nanoporeconf

[Gerome Breen @psychgenomics]

HAC v6.0 outperforms SUP 5.2 for modified base calling also. Big announcement! #Nanoporeconf

[Gerome Breen @psychgenomics]

Now @vellamike eulogising machine learning - promises some new announcements #Nanoporeconf

[Gerome Breen @psychgenomics]

Shows that bacterial assemblies near identical with HACv6 and SUP5.2. Now have developed Dorado SmallVar which outperforms Clair3 - 13 minutes per genome on prom tower. #Nanoporeconf

[Gerome Breen @psychgenomics]

Updated Q-Line GridION - for biopharma QC - also for clinical use. #Nanoporeconf

[Gerome Breen @psychgenomics]

Graham Hall outline workflow and manufacturing improvements, and with Sissel Juel overviewing the portfolio of applications. #Nanoporeconf

[Gerome Breen @psychgenomics]

New tools on the way on the including Mahimahi for phased analysis of clinical repeats - we want this @oxfordnanopore ! - #Nanoporeconf

[Gerome Breen @psychgenomics]

Getting ready for the big talk of the day at London Calling revealling new tech, from @vellamike Lakmal Jayasinghe and others at Oxford Nanopore #Nanoporeconf