Clinical genetic diagnosis
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Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic test.
15p vibransone 28-03-2024 2 2 Download
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Clinical laboratories implement a variety of measures to classify somatic sequence variants and identify clinically significant variants to facilitate the implementation of precision medicine. To standardize the interpretation process.
14p vibransone 28-03-2024 2 1 Download
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Developmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 of which were sequenced as proband-parent trios.
11p vioraclene 31-03-2024 2 2 Download
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Clinical interpretation of genetic variants in the context of the patient’s phenotype is becoming the largest component of cost and time expenditure for genome-based diagnosis of rare genetic diseases. Artificial intelligence (AI) holds promise to greatly simplify and speed genome interpretation by integrating predictive methods with the growing knowledge of genetic disease.
19p vibransone 28-03-2024 3 2 Download
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Ebook "Chemical diagnostics: From bench to bedside" is concluded with the case of successful applications in the medical field. By using few drops of blood, newborn screening can identify babies with various genetic diseases soon after birth. Mass spectrometry has played a key role in metabolomics diagnostics in the clinics, allowing unambiguous identification of metabolites and their isoforms. Quantification at high precision can be achieved through various approaches.
204p tudohanhtau1006 29-03-2024 4 1 Download
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Type 2 diabetes (T2D) is a worldwide scourge caused by both genetic and environmental risk factors that disproportionately afflicts communities of color. Leveraging existing large-scale genome-wide association studies (GWAS), polygenic risk scores (PRS) have shown promise to complement established clinical risk factors and intervention paradigms, and improve early diagnosis and prevention of T2D.
16p viellison 28-03-2024 7 2 Download
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Changes in medical practice are needed to improve the diagnosis of monogenic forms of selected common diseases. This article seeks to focus attention on the need for universal genetic testing in common diseases for which the recommended clinical management of patients with specific monogenic forms of disease diverges from standard management and has evidence for improved outcomes.
10p viellison 28-03-2024 4 2 Download
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Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing (WES).
26p viellison 28-03-2024 2 2 Download
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Part 3 book "2013 CURRENT medical diagnosis and treatment" includes content: Nutritional disorders; common problems in infectious diseases and antimicrobial therapy; hiv infection and aids; viral and rickettsial infections; bacterial and chlamydial infections; spirochetal infections; protozoal and helminthic infections; mycotic infections; disorders related to environmental factors; poisoning; cancer; clinical genetic disorders; sports medicine and outpatient orthopedics; women’s health issues.
691p muasambanhan08 04-03-2024 7 1 Download
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In China, ~1,072,100 small for gestational age (SGA) births occur annually. These SGA newborns are a high-risk population of developmental delay. Our study aimed to evaluate the genetic profile of SGA newborns in the newborn intensive care unit (NICU) and establish a prognosis prediction model by combining clinical and genetic factors.
15p vicwell 29-02-2024 4 2 Download
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The diagnostic yield of genetic testing for inherited cardiac diseases is up to 40% and is primarily indicated for screening of at-risk relatives. Here, we evaluate the role of genomics in diagnosis and management among consecutive individuals attending a specialised clinic and identify those with the highest likelihood of having a monogenic disease.
14p vicwell 29-02-2024 4 1 Download
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Ehlers–Danlos syndrome is a clinically and genetically heterogeneous group of heritable connective tissue disorders caused by a defect in collagen synthesis and structure. The vascular subtype (Ehlers–Danlos syndrome IV) is reported to be associated with a higher incidence of gastrointestinal perforations.
7p vilazada 31-01-2024 2 2 Download
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Part 1 book "Dog breeding, whelping and puppy care" includes content: Care of the juvenile, genetics and planning of breeding; anatomy of the female; physiology of the female; endocrinology of the female; clinical examination of the female; anatomy of the male; physiology of the male; endocrinology of the male; normal mating; clinical examination of the male; fertilization and the optimal breeding time; pregnancy and lactation; pregnancy diagnosis; normal whelping; care of neonatal puppies.
160p oursky10 04-12-2023 2 2 Download
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The clinical diagnosis of genetic disorders is undergoing transformation, driven by whole exome sequencing and whole genome sequencing (WES/WGS). However, such nucleotide-level resolution technologies create an interpretive challenge.
10p visteverogers 24-06-2023 3 2 Download
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The clinical presentations of each patient in this study are different from each other, demonstrating the intrafamilial phenotypic variability of this mutation. Early identification of the underlying genetic course of the disease by sequencing, combined with clinical findings provides solid evidence to diagnosis process, genetic counseling and management strategy.
9p vicaptainmarvel 21-04-2023 4 2 Download
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Molecular diagnosis of Inherited Retinal Dystrophies (IRD) has long been challenging due to the extensive clinical and genetic heterogeneity present in this group of disorders. Here, we describe the clinical application of an integrated next-generation sequencing approach to determine the underlying genetic defects in a Spanish family with a provisional clinical diagnosis of autosomal recessive Retinitis Pigmentosa (arRP).
11p vinarcissa 21-03-2023 1 1 Download
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Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis.
21p vialfrednobel 29-01-2022 13 0 Download
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Neoplastic transformation of germinal center B (GCB) cells may give rise to a variety of different B cell lymphoma subtypes, most of which show substantial heterogeneity in terms of genetic alterations and clinical features. The mutations observed in cancerrelated genes in GCB cells are related to abnormalities in the immunogenetic mechanisms associated with germinal center reaction. Recent studies have rapidly identified genomic alterations in B cell lymphomas that may be useful for better subclassification, noninvasive diagnosis, and prediction of response to therapy.
14p thiencuuchu 27-11-2021 13 1 Download
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Tuberculosis (TB), particularly multi- and or extensive drug resistant TB, is still a global medical emergency. Whole genome sequencing (WGS) is a current alternative to the WHO-approved probe-based methods for TB diagnosis and detection of drug resistance, genetic diversity and transmission dynamics of Mycobacterium tuberculosis complex (MTBC).
15p vijeeni2711 24-07-2021 6 0 Download
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Next generation sequencing (NGS) has been a handy tool in clinical practice, mainly due to its efficiency and cost-effectiveness. It has been widely used in genetic diagnosis of several inherited diseases, and, in clinical oncology, it may enhance the discovery of new susceptibility genes and enable individualized care of cancer patients.
8p vianrose2711 27-04-2021 10 1 Download