![Maternal cell-free DNA sequencing superior to standard aneuploidy screening [CARE Study]](https://www.2minutemedicine.com/wp-content/uploads/2014/02/47-karyotype-350x250.jpg)
Australian couple-based genetic screening program feasible and accepted
1. In this prospective cohort study, genetic screening among Australian reproductive couples was widely accepted and associated with low decisional ...
Tag: genetic screening
#VisualAbstract: Site-Specific Therapy Guided by a 90-Gene Expression Assay Improved Survival in Patients with Cancer of Unknown Primary
Click here to read this study in the Lancet. ©2024 2 Minute Medicine, Inc. All rights reserved. No works may be ...
A new machine-learning model achieved higher diagnostic accuracy on Mendelian disorders than existing bioinformatic tools
1. AI-MARRVEL (AIM), a new artificial intelligence (AI) system, was trained using samples diagnosed by experts from the American Board ...
Genomic screening for hereditary conditions is cost-effective in young adults
1. In this decision analysis model, population screening for three common hereditary conditions was cost-effective in adults younger than 40. ...
BRCA1/2 pathogenic variants are associated with an increased risk of male breast, pancreatic, and stomach cancer.
1. Pathogenic variants of BRCA1 or BRCA2 are associated with an increased risk of pancreatic and stomach cancer in both ...
Variants in the SPTLC1 gene associated with juvenile amyotrophic lateral sclerosis
1. De novo variants in the SPTLC1 gene among unrelated patients were associated with juvenile amyotrophic lateral sclerosis using exome ...
Carriers of genetic variants of inherited cardiomyopathies and arrhythmias associated with unexplained sudden cardiac death
1. In this study of White and African American adults who had unexplained sudden cardiac death, nearly 20% of individuals ...
Normal tissue BRCA1 methylation associated with risk for high-grade ovarian cancer
1. BRCA1 promoter methylation in normal white blood cells (WBCs) was linked to risk for high-grade serous ovarian cancer (HGSOC). ...
Sequencing finds rare genetic disease risk in 1 out of 5 healthy adults
1. Whole genome sequencing (WGS) in primary care reveals new genetic diseases. 2. Currently, the clinical utility of such findings ...
New leukemia mutation offers therapeutic targets
Image: PD 1. Mutations in the colony-stimulating factor 3 receptor (CSF3R) gene were found in a majority of samples of ...