Hagen Tilgner from @WeillCornell on technology development to study splicing dynamics and dependencies with isoform-level long read single-cell/nuclei sequencing, pioneering work with @ishaanase @si_hardwick @noush_joglekar and others. #Fog2023
.@ksamocha Phasing variants without trios with the gnomAD database, using EM to infer if variants are in cis or trans
#FoG2023 www.biorxiv.org/content/10.1101/2023.03....
EA: Collaboration with @nvidia brings Dorado base calling of @nanopore WGS down to less than 40m for a 55x human genome with the H100 GPU #FoG2023
Some clinical use of @Illumina Complete Long Reads presented by @euanashley, who is talking about applying and conparing different technologies for genomic medicine at #FoG2023
Nathan Fowler from @BostonGeneCorp describing their transcripmic profiling of healthy and cancer patients, identifying 600 different immune cell type populations in peripheral blood, classified into 5 immunotype groups that can identify potential success of immunotherapy #FoG2023
Starting off day 2 of #FoG2023:
Karen Miga @khmiga, director of the human pangenome reference group, aiming to deliver an open access 'subway map' of >1000 diverse individuals, with matched cell lines and hiPSCs available to order from @Coriell_Science
Before you realize you've been using the wrong hashtag #FoG #FestivalOfGenomics #FoG2023