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Browsing Tag

Genetics research

13 posts
HHealth
A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions
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A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions

  • March 13, 2026
FTLD-FET consortium We established an international consortium to identify and bring together a sufficiently large case population to…
HHealth care
Florida law models what genetic disease testing could be
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Florida law models what genetic disease testing could be

  • February 10, 2026
In Florida, a new genetic disease screening program allows parents of newborns to receive free whole genome sequencing…
GGenetics
Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health
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Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health

  • October 11, 2025
To identify genes associated with either adult BMI or T2D risk, we performed association testing using WGS data…
GGenetics
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)
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Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)

  • September 6, 2025
Capone VP, Morello W, Taroni F, Montini G. Genetics of congenital anomalies of the kidney and urinary tract:…
GGenetics
Deep genome sequencing reveals extensive genetic heterogeneity in early human placentas
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Deep genome sequencing reveals extensive genetic heterogeneity in early human placentas

  • August 23, 2025
Deep genome sequencing reveals spatial genetic heterogeneity with multiple unique clones in both early and late stage placentas…
GGenetics
Neurobehavioral profile of individuals with pathogenic variants in CHD3
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Neurobehavioral profile of individuals with pathogenic variants in CHD3

  • August 19, 2025
Global, regional, and national incidence, prevalence, and years lived with disability for 354 diseases and injuries for 195…
GGenetics
Genetic insights into causal effects of lipids and lipid-modifying targets on calcific aortic valve stenosis: a Mendelian randomized study
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Genetic insights into causal effects of lipids and lipid-modifying targets on calcific aortic valve stenosis: a Mendelian randomized study

  • August 12, 2025
Yadgir, S. et al. Global burden of disease study 2017 nonrheumatic valve disease collaborators. Global, regional, and National…
GGenetics
Direct letters to relatives at risk of hereditary cancer—a randomised trial on healthcare-assisted versus family-mediated risk disclosure
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Direct letters to relatives at risk of hereditary cancer—a randomised trial on healthcare-assisted versus family-mediated risk disclosure

  • July 31, 2025
Study context The management of genetic testing results and consequent risk information is not explicitly addressed in Swedish…
GGenetics
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients
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Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients

  • July 21, 2025
Cohort characteristics and model risk score distribution The study cohort comprised 92,493 patients enrolled in the DT Biobank…
GGenetics
Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs
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Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs

  • July 12, 2025
Ethics We received approval to access and analyze deidentified genetic and phenotypic data from the two cohorts from…
United States
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