Genetics in medicine : official journal of the American College of Medical Genetics
Sep 13, 2022
PURPOSE: The variable expressivity and multisystem features of Noonan syndrome (NS) make it difficult for patients to obtain a timely diagnosis. Genetic testing can confirm a diagnosis, but underdiagnosis is prevalent owing to a lack of recognition a...
Genetics in medicine : official journal of the American College of Medical Genetics
Aug 17, 2022
PURPOSE: Cohort building is a powerful foundation for improving clinical care, performing biomedical research, recruiting for clinical trials, and many other applications. We set out to build a cohort of all monogenic patients with a definitive causa...
Genetics in medicine : official journal of the American College of Medical Genetics
May 25, 2022
Deep learning (DL) is applied in many biomedical areas. We performed a scoping review on DL in medical genetics. We first assessed 14,002 articles, of which 133 involved DL in medical genetics. DL in medical genetics increased rapidly during the stud...
Genetics in medicine : official journal of the American College of Medical Genetics
May 14, 2022
PURPOSE: The study aimed to determine the diagnostic yield, optimal timing, and methodology of next generation sequencing data reanalysis in suspected Mendelian disorders.
Genetics in medicine : official journal of the American College of Medical Genetics
Nov 30, 2021
PURPOSE: Artificial intelligence (AI) and variant prioritization tools for genomic variant analysis are being rapidly developed for use in clinical diagnostic testing. However, their clinical utility and reliability are currently limited. Therefore, ...
Genetics in medicine : official journal of the American College of Medical Genetics
Jul 6, 2021
PURPOSE: Roughly 70% of suspected Mendelian disease patients remain undiagnosed after genome sequencing, partly because knowledge about pathogenic genes is incomplete and constantly growing. Generating a novel pathogenic gene hypothesis from patient ...
Genetics in medicine : official journal of the American College of Medical Genetics
Jan 24, 2019
PURPOSE: Despite the successful progress next-generation sequencing technologies has achieved in diagnosing the genetic cause of rare Mendelian diseases, the current diagnostic rate is still far from satisfactory because of heterogeneity, imprecision...
Genetics in medicine : official journal of the American College of Medical Genetics
Sep 10, 2018
Recent dramatic advances in multiomics research coupled with exponentially increasing volume, complexity, and interdisciplinary nature of publications are making it challenging for scientists to stay up-to-date on the literature. Strategies to addres...
Genetics in medicine : official journal of the American College of Medical Genetics
Jul 20, 2017
PurposeRecognizing individuals with inherited diseases can be difficult because signs and symptoms often overlap those of common medical conditions. Focusing on inborn errors of metabolism (IEMs), we present a method that brings the knowledge of high...