The rising cost of private health insurance and constraints within public health systems are global concerns. Genetic testing presents a transformative opportunity for health care to enhance health outcomes and optimise resource allocation through pe...
American journal of medical genetics. Part A
38168469
Data science methodologies can be utilized to ascertain and analyze clinical genetic data that is often unstructured and rarely used outside of patient encounters. Genetic variants from all genetic testing resulting to a large pediatric healthcare sy...
Clinica chimica acta; international journal of clinical chemistry
38521163
In India, newborn screening (NBS) is essential for detecting health problems in infants. Despite significant progress, significant gaps and challenges persist. India has made great strides in genomics dueto the existence of the National Institute of ...
Identifying disease-causing variants in Rare Disease patients' genome is a challenging problem. To accomplish this task, we describe a machine learning framework, that we called "Suggested Diagnosis", whose aim is to prioritize genetic variants in an...
Inherited arrhythmia disorders account for a significant proportion of sudden cardiac death, particularly among young individuals. Recent advances in our understanding of these syndromes have improved patient diagnosis and care, yet certain clinical ...
Reproductive biology and endocrinology : RB&E
38778410
BACKGROUND: The best method for selecting embryos ploidy is preimplantation genetic testing for aneuploidies (PGT-A). However, it takes more labour, money, and experience. As such, more approachable, non- invasive techniques were still needed. Analys...
Journal of the American Heart Association
38879446
BACKGROUND: Familial hypercholesterolemia (FH), while highly prevalent, is a significantly underdiagnosed monogenic disorder. Improved detection could reduce the large number of cardiovascular events attributable to poor case finding. We aimed to ass...
BACKGROUND: Hypodontia is the most prevalent dental anomaly in humans, and is primarily attributed to genetic factors. Although genome-wide association studies (GWAS) have identified single-nucleotide polymorphisms (SNP) associated with hypodontia, g...
BACKGROUND: Oxidative stress serves a crucial role in tumor development. However, the relationship between ovarian cancer and oxidative stress remains unknown. We aimed to create an oxidative stress-related prognostic signature to enhance the prognos...
Reproductive biology and endocrinology : RB&E
39118049
PURPOSE: To determine the factors influencing the likelihood of biochemical pregnancy loss (BPL) after transfer of a euploid embryo from preimplantation genetic testing for aneuploidy (PGT-A) cycles.