Weighing data and models
New partnerships over data will drive transparency and enable individuals to unlock value and insights for better medical and financial health. But a figure is only as good as the source that made it, and a model is only as good as the world it assumes — here a model means a simulation of reality, not any statistical analysis.
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Weighing data and models posts, most recent first.
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Item refines peer-reviewed
Whole-genome sequencing gave a genetic diagnosis in 4.9% of kidney anomaly cases
Whole-genome sequencing of 1,052 people with congenital anomalies of the kidney and urinary tract in the UK 100,000 Genomes Project gave a single-gene diagnosis in 4.9%, with common and low-frequency variants estimated to explain 23% of phenotypic variance.
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Item refines peer-reviewed
Only the cognitive part of education's polygenic score tracks Alzheimer's disease
Across four cohorts totalling 3,483 participants, the cognitive component of an educational attainment polygenic score was inversely associated with Alzheimer's diagnosis and with Braak stage, while the non-cognitive component showed no association with any outcome.
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Item confirms peer-reviewed
Modelled measles scale-up in Kenya averts 879 deaths over ten years
A Markov model of measles vaccination in Kenya estimated that maintaining current funding would avert 213 deaths over ten years at $1,269 per DALY averted, while reaching 95% two-dose coverage would avert 879 deaths at $1,093 per DALY averted, at a very high cost to the health budget.
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Item new peer-reviewed
Projected cancer cases in sexual and gender minorities rise with self-identification
A projection applying cancer incidence rates to survey identification proportions estimated 15 times more cases at ages 55 to 59 among Millennial than Silent Generation sexual and gender minority Americans, 77,521 against 5,134 over five years, driven by who identifies rather than by risk.
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Item new preprint
An Amish founder-population cohort links genomes and cognition in 3,978 older adults
The Collaborative Amish Aging and Memory Project has enrolled 3,978 older Amish adults in Ohio and Indiana, 2,928 with consensus-adjudicated cognitive status, alongside multigenerational pedigrees, whole-genome sequencing and plasma biomarkers, and reports no findings beyond its composition.
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Item confirms preprint
Gradient boosting did no better than logistic regression on HPV vaccine hesitancy
In 1,156 Cameroonian parents of children aged 9 to 18, XGBoost, random forest and logistic regression predicted HPV vaccine hesitancy almost identically (AUC 0.841-0.870, XGBoost 0.870 against 0.869, p=0.965), with logistic regression the best calibrated.
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Item new preprint
Bacteria in wastewater tracked community COVID-19 rates alongside viral load
A preprint reports that bacterial genera in wastewater, including gut commensals depleted during SARS-CoV-2 infection, tracked community COVID-19 case rates and predicted future rates slightly better than viral gene copies, though it gives no sample size or period.
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Item new peer-reviewed
An automated splenic measure on cardiac PET tracked later major cardiovascular events
In 16,650 patients having stress rubidium-82 cardiac PET at six sites, an automated splenic ratio was independently associated with later major cardiovascular events, most strongly among the 6,508 whose scans showed no ischaemia (HR 1.54, 95% CI 1.26-1.88).
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Item confirms peer-reviewed
Favourable lifestyle halved kidney stone incidence in 300,875 UK Biobank adults
Among 300,875 UK Biobank participants followed a median 12.3 years, 3,088 developed kidney stones, and those scoring favourably on seven lifestyle items had a hazard ratio of 0.51 (0.44 to 0.59) against the unfavourable group.
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Item refines peer-reviewed
Three Holter ECG markers with age predicted 5-year mortality at AUROC 0.79 in Israel
A random forest combining atrial fibrillation burden, premature ventricular contraction burden and T-wave alternans with age reached an AUROC of 0.79 for five-year all-cause mortality in 54,395 people recorded at Israeli primary care centres.
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Item new preprint
A generative model of patient records stratifies five-year risk of first cancer
A preprint describes an autoregressive generative model trained on electronic health records from millions of patients, reporting that supervised adaptation improved prediction of a first cancer diagnosis within five years across five cohorts.
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Item new preprint
Daraxonrasib is estimated at $500,637 per QALY in pancreatic cancer at US launch price
A modelled economic evaluation of daraxonrasib in previously treated metastatic pancreatic adenocarcinoma estimated 0.506 additional QALYs at an incremental cost of $253,171, or $500,637 per QALY at the $39,800 monthly launch price, in a preprint not yet peer reviewed.
