Results 1 to 10 of about 585,411 (243)
Singapore Medical Journal, 2023 With the increasing availability of genetic tests, more doctors are offering and ordering such tests for their patients. Ordering a genetic test appears to be a simple process of filling in paperwork, drawing 3 mL of blood in an ...
Hui-Lin Chin, Denise Li Meng Goh
doaj +1 more source
The role of genetics in modern medicine
Байкальский медицинский журнал, 2022 The lecture examines the role of modern genetics and its significance for medicine. The goals of genetics and its structure are determined. It is shown that modern medical genetics is divided into general genetics, clinical genetics and laboratory ...
Elena Anatolyevna Tkachuk +1 more
doaj +1 more source
Frontiers in Genetics, 2022 Neurodevelopmental disorders including autism spectrum disorder, intellectual disability, and global developmental delay are among the most common indications for referral to clinical genetics evaluation; and clinical genetic testing is indicated for ...
Amelle Shillington +12 more
doaj +1 more source
iScience, 2021 Summary: A first-in-human clinical trial of gene therapy in Leber congenital amaurosis due to mutations in the GUCY2D gene is underway, and early results are summarized.
Samuel G. Jacobson +12 more
doaj
Human variation in population-wide gene expression data predicts gene perturbation phenotype
iScience, 2022 Summary: Population-scale datasets of healthy individuals capture genetic and environmental factors influencing gene expression. The expression variance of a gene of interest (GOI) can be exploited to set up a quasi loss- or gain-of-function “in ...
Lorenzo Bonaguro +18 more
doaj
Beyond the exome: what's next in diagnostic testing for Mendelian conditions [PDF]
, 2023 Despite advances in clinical genetic testing, including the introduction of exome sequencing (ES), more than 50% of individuals with a suspected Mendelian condition lack a precise molecular diagnosis. Clinical evaluation is increasingly undertaken by specialists outside of clinical genetics, often occurring in a tiered fashion and typically ending ...
arxiv +1 more source
iScience, 2022 Summary: We carried out a genome-wide association analysis including 51,194 cases of hypothyroidism and 443,383 controls. In total, 139 risk loci were associated to hypothyroidism with genes involved in lymphocyte function.
Samuel Mathieu +9 more
doaj
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
Bayesian tensor factorization for predicting clinical outcomes using integrated human genetics evidence [PDF]
arXiv, 2022 The approval success rate of drug candidates is very low with the majority of failure due to safety and efficacy. Increasingly available high dimensional information on targets, drug molecules and indications provides an opportunity for ML methods to integrate multiple data modalities and better predict clinically promising drug targets.
arxiv
A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies
Frontiers in Cardiovascular Medicine, 2016 Titin (TTN) is known as the largest sarcomeric protein that resides within the heart muscle. Due to alternative splicing of TTN the heart expresses two major isoforms (N2B and N2BA) that incorporate four distinct regions termed the Z-line, I-band, A-band,
Marta Gigli +9 more
doaj +1 more source