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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 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 refines peer-reviewed
Shared genetic risk across cancers appears only in specific regions, not genome-wide
An analysis of 16 cancers plus a pan-cancer phenotype found only 20 genome-wide correlated cancer pairs but 82 genomic regions with shared local effects across 66 pairs, with cross-cancer polygenic score associations concentrated in immune and inflammatory pathways.
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Item refines peer-reviewed
Cancer polygenic scores were weaker in African-ancestry than European-ancestry veterans
Among 560,287 US veterans, all 13 cancer-specific polygenic risk scores were associated with their own cancer in European-ancestry participants (OR 1.05 to 1.70 per standard deviation), but only 5 of 13 reached significance in African-ancestry participants, with smaller effects (OR 1.01 to 1.48).
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Item refines peer-reviewed
Polygenic score for osteoporosis shows modest discrimination gain in Japanese adults
A Japanese-ancestry polygenic score for ultrasound-defined osteoporosis added little to discrimination beyond age and sex, but quintile stratification gave incidence rate ratios of 1.42 in the lowest and 0.70 in the highest quintile over a mean 3.5 years of follow-up.
