Ah. I love the smell of freshly baked data/analysis, well controlled false discovery rate (QQ plot) and just ... so many results. Which of the thousands of beautiful stars in the sky does one pull out to discuss? Biology is so endless and wonderful in its detail...
... to alter (butcher?) a passage from a far far wiser and more thoughtful man than me....
It is interesting to contemplate a tangled set of genetic results, associated to both well known genes and entirely anonymous regions of the genome, stories from physiology of old and hints of new insights, and to reflect ...
that these elaborately constructed forms, so different from each other, and dependent upon each other in so complex a manner, have all been produced by laws acting around us...
There is grandeur in this view of life; and that, whilst this planet has gone circling on according to the fixed law of gravity, from so simple a beginning endless forms most beautiful and most wonderful have been, and are being evolved.

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More from @ewanbirney

5 Aug
Had another moment of "well, yes, but people *are* different" and "you geneticists use continental groups in your analysis" as we skirted around discussions of ethnicity / race in health impacts. TL;DR Partially correct but the underlying mindset that ethnicity=genetics is wrong
Let's deal with the correct things first. Yes, people are different partly (sometimes mainly) due to genetics. Visibly, eg height, weight, hair colour, skin colour, smoking habits + invisibly, eg cholesterol levels, heart trabeculation levels, likelihood of getting breast cancer
Some of these visible differences we integrate into the gestalt assessment of ourselves and others for ethnicity, as represented by self identified ethnicity boxes which people tick, eg "Black British, White English, British Indian, British xxx", gloriously variable by society
Read 26 tweets
4 Aug
Great history of the electric car / mobility - 1890s onwards. I really like switching sometimes to a historical perspective on science and technology; it reminds one of the unchanging nature of human foibles and drivers with "you know how the technology story turns out"
There is, for me, a similar history of technology / medicine about the complex introduction of Xrays into medicine (I blogged about this 6 years - (! 6 years!) ago - ewanbirney.com/2015/10/genomi…
The journey of Xrays from spanking new whizzy technology to routine part of medicine is surprisingly complex - it involves twists and turns, inappropriate use of technology "just for fun" (echos of 23andme), and non obvious advocates for the uptake of the technology.
Read 4 tweets
3 Aug
A COVID perspective: TL;DR - the pandemic in the developed world has shifted due to successful vaccines, though plenty of complex and tricky scenarios to navigate; the developed world is in the midst of even harsher transmission rate from Delta.
Context: I am an expert in human genetics and bioinformatics. I know experts in viral genomics, infectious epidemiology, public health, clinical trials and immunology. I have some COIs: I am longstanding consultant to Oxford Nanopore (sequencing company) and am on the Ox/AZ trial
With the perspective of a glorious holiday in Northumberland, the last week disconnected from work and twitter, I have some bigger picture musings on the pandemic from my perspective.
Read 29 tweets
22 Jul
A personal view point on the #AlphaFold announcement today from the @DeepMind and @emblebi team, part of @embl. TL;DR - I am *still* pinching myself about this.
When @demishassabis and the AlphaFold team first presented the results from CASP to me last November I genuinely almost fell off my chair. I think I swore quite a bit (in a British way) in amazement.
One of the reasons was I knew how rigorous CASP was - 20 years ago people published all sorts of "solving the folding problem" which then... didn't work beyond the training set. CASP cleverly used the fact that there are genuinely unknown structures each year solved by experiment
Read 15 tweets
28 Jun
*trumpets* A new preprint by colleagues in @PHE_uk from @isaperena's group and myself (my first infectious epidemiology paper!) on single source transmission of COVID19 using viral genotyping to understand relative risk of transmission settings. papers.ssrn.com/sol3/papers.cf…
Background; we have known for a long time that there is overdispersion of SARS-CoV-2 transmission; some estimates are that 20% of settings/events account for 80% of transmission. Understanding where these transmission events occur is important for non-pharmaceutical interventions
Furthermore, if we can be confident of spotting these individual small-scale super-spreading events and inform other individuals who are at risk of infection at the same time we can highlight people who are at the higher risk for infection, eg, asking them to get a test.
Read 23 tweets
21 Jun
A group of us (@minouye271, @JenniferRaff, @aylwyn_scally @AdamRutherford and myself) have written a piece on the language we use in genetics; untangling from previous sometimes racist language and being more precise and less harmful. We welcome feedback. arxiv.org/abs/2106.10041
There are some straightforward 'stop using this term' aspects (the use of "Caucasian" for example); there are some complex "what does this term mean" (ethnicity labels, the ethnicity/race duality in US vs just ethnicity in UK / Europe) and then technical stuff on GWAS >>
The technical piece is about how we describe the common place GWAS protocol of subselecting a group people in cohorts for association analysis; a reminder that the standard process has two steps to achieve pseudo-randomisation of non-genetic factors to genetic factors
Read 14 tweets

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