This ought to be engraved somewhere.

An unarmed veteran was attacked from behind, sustaining injuries and being dragged into a Portland ice building.

Very funny cartoon from @stephencollins.bsky.social www.theguardian.com/lifeandstyle...

We have some bandwidth and so I’m interested in expanding the nbr of ME/CFS patients whose genomes we analyze. If you have data and would be interested in signing up to our protocol (we have found interesting findings in some, but not all people) please reach out and I can explain. #ME/CFS #Genomics

What types of variants are most commonly missed? #eshg2025

Choose Europe for Science: EU comes together to attract top research talent research-and-innovation.ec.europa.eu/news/all-res...

AM: 1,715 combinations with nominally significant impacts were identified in UK Biobank study. Two clinically relevant examples of effect heterogeneity were seen: 1) BMA -T2D attenuates with age, 2) LDL cholesterol exacerbates with increased urate. Study just published #ESHG2025

AM: Resid-Strat, DR by G, DR by X, and Raw-Strat methods were all tested in term of impact on Type 1 error. Each method was found to be differentially affected by collider biases #ESHG2025

AM: discussing sources of collider bias - biases that occur when an exposure and outcome (or factors causing these) each influence a common third variable #ESHG2025

AM: Asking: In precision medicine in patients with cardiovascular disease - how can we systematically identify patients differentially effected by a broad range of clinical variables and risk modifiers #ESHG2025

Up now Alice Man discussing Identification of effect modifiers using a stratified mendelian randomization algorithmic framework #ESHG2025

CA: Collectively these measurements account for 70% of variation, allowing generation of an accurate time of day prediction that acts as a proxy for internal circadian time #ESHG2025

CA: Noted that effects were associated with multiple psychiatric disorders #ESHG2025

CA: Oscillation measure developed seen to be highly correlated with sleep questionnaire data and propensity to work night shifts due to sleep cycle shift #ESHG2025

CA: Proteomics explains 68% of circadian effect (despite being a smaller dataset), NMR 39%, Biochemistry 13%, and cell counts 6% #ESHG2025

CA: Studying which tissues show greatest circadian effect - variability with amplitude >0.2 and R2> 0.01 #ESHG2025

CA: Variety of plasma omics available for analysis. Time of day effect seen across all these datasets; to variable degrees when pre-regressed with age, PCs, fasting, and other technical covariates #ESHG2025

CA: Studied in the UK Biobank; identification of variance to be used to predict dysregulation/disease risk #ESHG2025

CA: circadian dysregulation alters the difference between external and internal time and can be measured by melatonin levels in the saliva #ESHG2025

Up now Clara Albinana on circadian dysregulation and disease risk in psychiatric and metabolic disorders #ESHG2025

LU: Studied incidence of T2D in individuals with melatonin prescription - individuals with the risk variant were seen to have higher risk of disease when supplemented with melatonin #ESHG2025

LU: Significant genetic correlation to short sleep. #ESHG2025

LU: Effect of MTNR1B variant effect varies over the day - assoc higher glucose in the am and lower in the pm - homozygous carriers showed 0.5mmol/l higher levels in the am than pm compared to non carriers - replicated to FinnGen, Estonian biobank #ESHG2025

LU: Performed Regenie testing on UK Biobank data. Identified signal at common variants at CRY2 and MTNR1B loci - signals only seen when variation over the day is considered, not in analyses without this concept #ESHG2025

LU: Disruption of sleep cycles have a metabolic effect associated with risk of disease #ESHG2025

LU: traits related to sleep have been shown to have 10-25% heritability amongst family members #ESHG2025

Up now Lea Urpa talking about genetic variants impacting diurnal glucose levels throughout the day #ESHG2025

JG: PGS can be used for prognostic enrichment - for use before implementation in real trials. #ESHG2025

JG: Answer was yes for both. Now asking if PGS can be used to identify individuals at high risk for trial outcomes. Answer is that it can - for certain trials. Need to evaluate case by case. #ESHG2025

JG: Asking if mendelian randomization can be used to detect cofounders related to treatment or outcome. So - can the presence of a trait impact the likelihood of an individual being in the case or control group and/or influence the treatment outcome #ESHG2025

JG: Asking how treatment and control groups differed in 4 clinical trials: emparag, tecos, rocket, and (missed the last one) using PGSs - saw different genetic structure between the cases and controls #ESHG2025

Up now Jakob German discussing cardiometabolic studies making use of the data in the FinnGen repository #ESHG2025

FB: However lived experience can also be limited (idiosyncratic, subject to revision) and difficult to transfer/access #ESHG2025

FB: Personal identity is a key component of the way severity is perceived, experienced, and appears within attitudes screening and testing #ESHG2025

FB: Openness to varying interpretations of severity and the full range of factors that impact is - social, environmental, interpersonal, structural - is critical #ESHG2025

FB: Discussing the social dimensions of disease severity and stigma and how the social aspects can impact the experience and perception of disease severity #ESHG2025

FB: Discussing age of onset and severity in the lens of the lived experiences of the patients #ESHG2025

FB: Discussing the "Imagining Futures study" 2018-2023. families living with a variety of genetic conditions: CF, fragile X, muscular atrophy, haemophilia, thalassemia. 1,273 surveys constructed and 146 in-depth interviews #ESHG2025

FB: But despite that severity is a widely used concept that acts as a gatekeeper for access to healthcare #ESHG2025

FB: Severity is an inherently subjective concept, not well defined, and loosely measured #ESHG2025

Up now Felicity Boardman discussing the role of severity as a threshold concept in the field of health and social care. #ESHG2025

In the S05 session on Decoding actionability, severity, and utility in genomics #ESHG2025

Just about alive enough to type 🤣. Glad to be at #ESHG2025. Who is about?

💻WiFi password for #ESHG2025 - 😊Username: eshg2025 -❓Password: eshg2025

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Well, one thing I'll say, all the Tenure applications at #Michigan that were approved were announced without delay about a week ago. And I know for sure that this list includes people who do research/teaching in racial justice and "DEI", because I know a few of them. So we've got that at least

This hits hard—and says everything about where we are right now. A Yale professor says he’s relocating to Canada to continue his democracy work. When asked why not stay in the U.S. and fight, he says he has two Black sons and he’s the son of a Holocaust survivor—and this is an “anti-Black moment”.

#ScienceSky #MedSky #Blacksky

Our ability to predict a person's risk of heart disease keeps getting better, even among those previously considered at low risk by traditional clinical criteria @naturemedicine.bsky.social by my team @scripps.edu www.nature.com/articles/s41...