John Greally

@greally
267 Followers
123 Following
155 Posts
Medical genomics, ‘epigenetics’. Physician-scientist working in the Bronx/Wappinger-Munsee Lenape land.
GenomicsHealth disparities
EpigeneticsMedical genetics
Future of Genuity’s Irish DNA database is worryingly uncertain

State controversially funded private sector initiative to leverage DNA samples from Irish people for profit

The Irish Times
John Greally on LinkedIn: #medicalgenomics

In what looks like a nice study, I was perturbed to read that 54% of the novel variants that were part of the 'positive' diagnostic group were variants of…

How to maximise your visibility while directing traffic in The Bronx
Street artists approve of education in the #bronx
One of our lab specialties is getting orchids to re-bloom. This beautiful little plant from the NY Botanical Garden here in the #Bronx is giving us a taste of early Spring.

Probably not very many people here interested in the dynamics of the DNA sequencing market. But I’m going to post it anyway!

https://aseq.substack.com/p/illuminas-sorrow-and-desouzas-woes?sd=pf

Illumina’s Sorrow and DeSouza’s Woes

There’s an interesting article on Illumina in the FT. It’s well worth reading but I’ve listed what I think are the key quotes below: Within the next few weeks Brussels is expected to hit it [Illumina] with a fine of up to 10 per cent of revenues or about $450mn, for closing the Grail deal despite opposition from regulators.

ASeq Newsletter

Quoting @[email protected] among others, the value of bringing all groups into genomics research is proposed.

https://www.theguardian.com/science/2023/jan/29/the-human-genome-needs-updating-but-how-do-we-make-it-fair

The human genome needs updating. But how do we make it fair?

Healthcare’s standard genome is mostly based on one American. As we enter the era of personalised medicine, this bias has drawbacks for much of the world’s population

The Guardian

Combined Winter party for @[email protected] labs of myself, @[email protected] and @[email protected]

Great to be able to catch up and see old friends who popped by to say hello.

There’s a 2021 paper from a Norwegian group that precedes this new preprint:

https://pubmed.ncbi.nlm.nih.gov/34729487/

Intraoperative DNA methylation classification of brain tumors impacts neurosurgical strategy - PubMed

Intraoperative nanopore sequencing combined with machine learning diagnostics was robust, sensitive, and rapid. This strategy allowed DNA methylation-based classification of the tumor to be returned to the surgeon within a timeframe that supports intraoperative decision making.

PubMed