How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12507
Abstract: Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has created tremendous improvement in achieving an accurate and timely molecular diagnosis for a greater number of patients, but it still leaves the… read more here.
Keywords: review genetic; diagnosis; proceed negative; negative exome ... See more keywords
The time for next-generation molecular genetic diagnostics in nephrology is now!
Sign Up to like & getrecommendations! Published in 2018 at "Kidney international"
DOI: 10.1016/j.kint.2018.03.025
Abstract: Global and disease-group genetic testing is replacing single-gene molecular diagnostics. Bullich et al. demonstrate that gene panel analysis can result in a high yield of genetic diagnoses in cystic and familial glomerular populations. As the complexity… read more here.
Keywords: nephrology; time next; molecular genetic; genetic diagnostics ... See more keywords
Improving genetic diagnostics of skeletal muscle channelopathies
Sign Up to like & getrecommendations! Published in 2020 at "Expert Review of Molecular Diagnostics"
DOI: 10.1080/14737159.2020.1782195
Abstract: ABSTRACT Introduction Skeletal muscle channelopathies are rare inherited conditions that cause significant morbidity and impact on quality of life. Some subsets have a mortality risk. Improved genetic methodology and understanding of phenotypes have improved diagnostic… read more here.
Keywords: skeletal muscle; genetic diagnostics; diagnostics skeletal; muscle channelopathies ... See more keywords