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UnknownExome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
Copy number variants (CNVs) are significant contributors to the pathogenicity of rare genetic diseases and with new innovative methods can now reliably be identified from exome sequencing. Challenges still remain in accurate classification of CNV pathogenicity. CNV calling using GATK-gCNV was perfor...
S-EPMC10593084 | biostudies-literature
UnknownExome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Copy number variants (CNVs) are significant contributors to the pathogenicity of rare genetic diseases and, with new innovative methods, can now reliably be identified from exome sequencing. Challenges still remain in accurate classification of CNV pathogenicity. CNV calling using GATK-gCNV was perf...
S-EPMC11080278 | biostudies-literature
UnknownCongenital Titinopathy: Comprehensive characterization and pathogenic insights.

Objective

Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder.

Methods

Using massively parallel sequencing we identified 30 patients from 27 families with 2 pathogenic nonsense, frameshift and/or ...
S-EPMC6105519 | biostudies-literature
UnknownLiraglutide and Cardiovascular Outcomes in Type 2 Diabetes.

Background

The cardiovascular effect of liraglutide, a glucagon-like peptide 1 analogue, when added to standard care in patients with type 2 diabetes, remains unknown.

Methods

In this double-blind trial, we randomly assigned patients with type 2 diabetes and high cardiovascular risk t...
S-EPMC4985288 | biostudies-literature
UnknownEfficacy and Safety of Degludec versus Glargine in Type 2 Diabetes.

Background

Degludec is an ultralong-acting, once-daily basal insulin that is approved for use in adults, adolescents, and children with diabetes. Previous open-label studies have shown lower day-to-day variability in the glucose-lowering effect and lower rates of hypoglycemia among patients ...
S-EPMC5731244 | biostudies-literature
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