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Browsing Tag

Bioinformatics

10 posts
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
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
GenMasterTable: a user-friendly desktop application for filtering, summarising, and visualising large-scale annotated genetic variants | BMC Bioinformatics
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GenMasterTable: a user-friendly desktop application for filtering, summarising, and visualising large-scale annotated genetic variants | BMC Bioinformatics

  • August 13, 2025
GenMasterTable is a standalone, cross-platform desktop application developed in Python to facilitate scalable genomic data analysis. It integrates…
GGenetics
Grant to Help Bring DNA Technology to BC Courses | News
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Grant to Help Bring DNA Technology to BC Courses | News

  • August 7, 2025
A student volunteer of Stacy Alvares’ pilot project extracting crab DNA from crab shells during a summer lab…
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
Empowering our communities and region with Genomics | Featured Columnists
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Empowering our communities and region with Genomics | Featured Columnists

  • July 27, 2025
As biotechnology continues to advance rapidly, it is vital for communities in Micronesia to understand not only the…
GGenetics
Body found in 1994 south of Festus identified | Police Fire
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Body found in 1994 south of Festus identified | Police Fire

  • July 22, 2025
A body found just more than three decades ago in the Mississippi River south of Festus has been…
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
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
Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank
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Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank

  • June 27, 2025
Rush AJ, Trivedi MH, Wisniewski SR, Nierenberg AA, Stewart JW, Warden D, et al. Acute and Longer-Term Outcomes…
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