Could It Have Been Found With Short Reads?

Initially, the ESHG program was overwhelming.  With the exception of the official opening and closing sessions, every timeslot had multiple parallel sessions - and sometimes those also had competing corporate sessions.  Everything would be recorded and available for playback through November.  That took some pressure off "did I pick the wrong session?", but also is a double-edged sword - I might be attending ESHG for half a year! So I decided that my focus would be rare diseases, and if competing sessions on rare diseases then the one that most focused on genomics technology.  And that led to hearing what amounted to a refrain in the questions at the end of each long read talk: could this causative variant have been found by short reads?

Food For Thought On ONT's Proteomics Push

This year, instead of touring London after the Nanopore confab I headed to Italy for the European Society of Human Genetics meeting.  Upon hearing Lakmal Jayasinghe describe ONT's proteomics plans, I was debating what to do with my pre-LC piece on the peptide sequencing. Perhaps I could ask a restaurant owner in the shadow of the Duomo whether it would go better with risotto Milanese or perhaps as an addition to a minestrone.  But with more thought, while I remain intrigued by ONT's concept, I still think many parts of what I wrote still stand up.

Roche Gives SBX Updates - and a Name!

Last week I double-dipped on conferences, going from London Calling to European Society for Human Genetics (ESHG) in Milan.  I have a raft of notes and ideas from these, which I'll try to spool out over the next week or two before jumping to a long list of more whimsical ideas I've jotted down.   First up are some updates on Roche's SBX sequencing technology, which has now been christened Axelios - which Nava Whiteford reported in his ASeq newsletter.