Ian Berry
@LaughingGenome
Followers
590
Following
2K
Media
51
Statuses
2K
clinical laboratory geneticist, exome sequencer, science enthusiast, husband, father
Leeds, England
Joined July 2017
So you’re telling me, after nearly quarter of a century of GWAS, after which they’ve discovered not very much about human heritability, that GWAS outcomes are mostly noise? That is… somewhat predictable, I guess (p < 5 × 10−8).
On reflection, I think this paper actually burys the lede about association studies. A more pointed conclusion might be that many tens or hundreds of millions of dollars in functional follow-up on disease-variant associations [1] have been essentially wasted, and are continuing
0
0
3
And this isn’t at all dangerous or ethically questionable…
Try submitting x-ray, PET, MRI or other medical images to Grok for analysis. This is still early stage, but it is already quite accurate and will become extremely good. Let us know where Grok gets it right or needs work.
0
0
0
Nonorganic = monogenic! Autocorrect woes, although strangely somewhat accurate, could’ve been worse 😂
0
0
3
And, presumably, identifying all those who have a nonorganic form of kidney disease. Massively under-diagnosed worldwide. In England, the Genomic Medicine Service has ensured more equitable access, including whole genome sequencing for suspected genetic cystic renal disease.
Study of kidney disease hospitalizations finds that genetic kidney disease leads to higher & more costly admissions than non-genetic chronic kidney disease, highlighting the need for tailored secondary prevention & resource allocation https://t.co/JdcqOCGtaO
@AndrewMallett8 #GIMO
3
2
9
Classifying genomic variants? Have case control data for PS4? Try our new tool, the PS4-Likelihood Ratio Calculator ( https://t.co/nfaaepJWNY).
https://t.co/b8hXBJZDqI Allows user to define the odds ratio (representing anticipated underlying strength of disease association
0
6
17
This has taken years off my life and it’s finally out! Couldn’t have done it without @Moinsaleem @wenwyd20 Ania Koziell and the long suffering Aga! Thank you! https://t.co/fKtZVaRWcO
@BAPNnephrology
nature.com
Scientific Reports - Rare heterozygous variants in paediatric steroid resistant nephrotic syndrome – a population-based analysis of their significance
2
1
14
Really great story! I didn’t knit the aftermath of “Eric the Eel”’s Olympic journey until today.
You probably know the start of this Olympic story, but do you know how it finished? This photo is of Eric Moussambani, aka 'Eric the Eel' from Equatorial Guinea, competing in the 100m Freestyle event at the Sydney 2000 Olympics, alone. Why? /1
0
0
0
Really welcome change, this is a fantastic dataset now on the UK’s (maybe the world’s?) premium clinical genomics browser, enhancing the interpretation of CNVs in array and WGS testing.
The structural variant genome track has been updated to @gnomad_project v4.1 – 1,199,117 high quality structural variants identified in 63,046 genomes from unrelated individuals
1
1
9
Well yeah this is great but, erm, it has big gaps where water can get through?
Dry-stacked interlocked masonry. It enables affordable building construction, speedier construction (up to 50% in time saving) and relatively high quality with enhanced aesthetic properties. https://t.co/tokv0gjRVh
0
0
0
I wrote about the latest attempt to sell genetic IQ prediction and why it is snake oil. A short 🧵:
30
293
1K
Just voted. Turnout low and polling station staffed entirely by bewildered primary school children. Make of that what you will.
39
874
5K
One of my least favorite journalistic tropes in the world is asking politicians if they know how much a loaf of bread, pint of milk etc costs. Stupid meaningless gotcha-ism. I’m not sure I could tell you either.
Ben Thompson: You appear to be in a supermarket.. do you know how much a loaf of bread costs Rishi Sunak: £1.35 RT: Do you know how much that loaf of bread has gone up by in the last 5 years RS: No... Waffle.. waffle RT: It's gone up by 28% according to the ONS #BBCBreakfast
0
0
1
Why I'm so irritated by the Conservatives' attack on Starmer for work-life balance: it's just one of a host of examples of real improvements in UK living standards that don't cost, opposed by the less-enlightened. See this chart, others that follow: 1/
24
123
703
🧬New rare disease solved ! Happy to share our latest work on the developmental disorder associated to a recurrent missense variant in FEM1B (1/5) https://t.co/05jNAqVp9y
2
8
26
I had several Amigas through the early 90s and don’t remember the 87 version at all. I think they all had the 85 typography.
0
0
2
A wonderful day in Taunton spreading the Genomics love to SW healthcare scientists and hearing lots of inspirational talks. @SWGenomics @SWGLH
Colleagues from @SWGenomics presenting on the SW Genomic Medicine Service & the genomics laboratory hub & workforce. Genomics are critical to driving personalised medicine with a national genomic test directory supporting the application of genomics into practice. #SWHCSCONF24
1
1
6
@SaghiraMSharif @MelodyRedman @Mufti_MZButt @LeedsClinGen Thank you for your work over many years on this - you are a great advocate for patients and families
0
2
6
An important update from Rob Taylor, Sian Ellard, and Emma Baple providing the ACGS position statement on rare disease diagnostic genomic testing in the UK and Ireland. #ACGS2024 @taylorlabncl @EllardSian @RDExeter
0
7
23