Results 31 to 40 of about 10,016,032 (374)
Federated generalized linear mixed models for collaborative genome-wide association studies
iScience, 2023 Summary: Federated association testing is a powerful approach to conduct large-scale association studies where sites share intermediate statistics through a central server. There are, however, several standing challenges.
Wentao Li +3 more
doaj +1 more source
A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service [PDF]
, 2015 Ensuring patient access to genomic information in the face of increasing demand requires clinicians to develop innovative ways of working. This paper presents the first empirical prospective observational cohort study of UK multi-disciplinary genetic ...
A Norris +38 more
core +1 more source
Journal of Inherited Metabolic Disease, 2019 Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown‐Vialetto‐Van Laere and Fazio‐Londe syndromes since the discovery of pathogenic mutations in the SLC52A2 and SLC52A3 genes that encode human riboflavin ...
B. O’Callaghan, A. Bosch, H. Houlden
semanticscholar +1 more source
Immunopathogenesis of rheumatoid arthritis [PDF]
, 2017 Rheumatoid arthritis (RA) is the most common inflammatory arthropathy. The majority of evidence, derived from genetics, tissue analyses, models, and clinical studies, points to an immune-mediated etiology associated with stromal tissue dysregulation that
Ahmed +115 more
core +1 more source
Genetics in clinical oncology [PDF]
The Indian Journal of Pediatrics, 1982 This is the first book to provide a thorough grounding in the applications of genetics to cancer medicine, enabling the clinician to convey to patients and their families an understanding of the genetic nature of cancer, and to provide them with accurate advice.
openaire +2 more sources
, 2018 Type 1 diabetes is a chronic autoimmune disease characterised by insulin deficiency and resultant hyperglycaemia. Knowledge of type 1 diabetes has rapidly increased over the past 25 years, resulting in a broad understanding about many aspects of the ...
DiMeglio, Linda A. +2 more
core +1 more source
Increasing confidence and changing behaviors in primary care providers engaged in genetic counselling. [PDF]
, 2017 BackgroundScreening and counseling for genetic conditions is an increasingly important part of primary care practice, particularly given the paucity of genetic counselors in the United States.
A Cull +42 more
core +1 more source
New variants of ABCA12 in harlequin ichthyosis baby
Journal of Pediatric and Neonatal Individualized Medicine, 2018 Harlequin ichthyosis (HI) is an extremely rare genetic skin disorder and the most severe form of a group of disorders, which includes lamellar ichthyosis and congenital ichthyosiform erythroderma.
Sara Peixoto +5 more
doaj +1 more source
Advances in clinical genetics and genomics
Intelligent Medicine, 2021 Developments in genetics and genomics are progressing at an unprecedented speed. Twenty years ago, the human genome project provided the first glimpses into the human genome sequence and launched a new era of human genetics.
Sen Zhao +6 more
doaj +1 more source
An Introduction to Recursive Partitioning: Rationale, Application and Characteristics of Classification and Regression Trees, Bagging and Random Forests [PDF]
, 2009 Recursive partitioning methods have become popular and widely used tools for nonparametric regression and classification in many scientific fields. Especially random forests, that can deal with large numbers of predictor variables even in the presence of
Malley, James +2 more
core +1 more source