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Browsing Tag

Genetics research

6 posts
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…
GGenetics
A close-up of a hand holding several clusters of ripe red cherry tomatoes still attached to green stems, with leafy green foliage in the background.
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Branching out: Tomato genes point to new medicines

  • July 9, 2025
The Takeaway CSHL’s Lippman and McCandlish labs have discovered how interactions between cryptic genetic mutations can increase or…
GGenetics
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia
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A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia

  • July 4, 2025
Tan W, Lin A, Keppler-Noreuil K. Cranioectodermal Dysplasia. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace…
GGenetics
Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population
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Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population

  • July 3, 2025
This study provided a comprehensive analysis of the genetic landscape of IRD in an Iranian cohort (N = 111), revealing…
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