Trans-ethnic variation in germline variants of patients with renal cell carcinoma
Cell Reports, 2021 Summary: Prior studies of the renal cell carcinoma (RCC) germline landscape investigated predominantly patients of European ancestry. We examine the frequency of germline pathogenic and likely pathogenic (P/LP) variants in 1,829 patients with RCC from ...
Sarah Abou Alaiwi +18 more
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Mosaicism in clinical genetics [PDF]
Molecular Case Studies, 2021 Genetic mosaicism is the state in which there are two or more different sets of cells in a single individual because of one or more postzygotic mutations, and its importance in clinical genetics has long been recognized (Hall, Am J Hum Genet43: 355 [1988]). In this Perspective, a paper in this special issue on mosaicism from Cook et al.
openaire +2 more sources
Emerging Role of Clinical Genetics in CKD
Kidney Medicine, 2022 Chronic kidney disease (CKD) afflicts 15% of adults in the United States, of whom 25% have a family history. Genetic testing is supportive in identifying and possibly confirming diagnoses of CKD, thereby guiding care.
Prasad Devarajan +7 more
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Germline whole genome sequencing in pediatric oncology in Denmark—Practitioner perspectives
Molecular Genetics & Genomic Medicine, 2020 Background With the implementation of a research project providing whole genome sequencing (WGS) to all pediatric cancer patients in Denmark (2016–2019), we sought to investigate healthcare professionals' views on WGS as it was actively being implemented
Anna Byrjalsen +3 more
doaj +1 more source
Penalized EM algorithm and copula skeptic graphical models for inferring networks for mixed variables [PDF]
, 2014 In this article, we consider the problem of reconstructing networks for continuous, binary, count and discrete ordinal variables by estimating sparse precision matrix in Gaussian copula graphical models.
Abegaz, Fentaw, Wit, Ernst
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The Experience of a Tertiary Reference Hospital in the Study of Rare Neurological Diseases
Medicina, 2023 Background and Objectives: Rare diseases (RDs) are life-threatening or chronically impairing conditions that affect about 6% of the world’s population. RDs are often called ‘orphan’ diseases, since people suffering from them attract little support from ...
Styliani-Aggeliki Sintila +16 more
doaj +1 more source
Bringing genetics into primary care: findings from a national evaluation of pilots in England [PDF]
, 2009 Objectives: Developments in genetic knowledge and clinical applications are seen as rendering traditional modes of organizing genetics provision increasingly inappropriate.
Checkland K +8 more
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Rare genetic variants: making the connection with breast cancer susceptibility
AIMS Genetics, 2015 The practice of clinical genetics in the context of breast cancer predisposition has reached another critical point in its evolution. For the past two decades, genetic testing offered to women attending clinics has been limited to BRCA1 and BRCA2 unless ...
Tú Nguyen-Dumont +3 more
doaj +1 more source
Analysis of Gene-Environment Interactions Related to Developmental Disorders
Frontiers in Pharmacology, 2022 Various genetic and environmental factors are associated with developmental disorders (DDs). It has been suggested that interaction between genetic and environmental factors (G × E) is involved in the etiology of DDs.
Yuhei Nishimura +2 more
doaj +1 more source
Towards precision medicine for hypertension: a review of genomic, epigenomic, and microbiomic effects on blood pressure in experimental rat models and humans [PDF]
, 2017 Compelling evidence for the inherited nature of essential hypertension has led to extensive research in rats and humans. Rats have served as the primary model for research on the genetics of hypertension resulting in identification of genomic regions ...
Allbutt TC +34 more
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