K Manickam, MR McClain, LA Demmer, S Biswas… - Genetics in …, 2021 - nature.com
Purpose To develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital …
Disclaimer: This statement is designed primarily as an educational resource for medical geneticists and other clinicians to help them provide quality medical services. Adherence to …
Recent advances in MS-based proteomics have vastly increased the quality and scope of biological information that can be derived from human samples. These advances have …
M Vinkšel, K Writzl, A Maver, B Peterlin - Journal of Community Genetics, 2021 - Springer
According to a rough estimate, one in fifteen people worldwide is affected by a rare disease. Rare diseases are therefore common in clinical practice; however, timely diagnosis of rare …
A Capalbo, RA Valero, J Jimenez-Almazan… - PLoS …, 2019 - journals.plos.org
Limited translational genomic research data have been reported on the application of exome sequencing and parallel gene testing for preconception carrier screening (PCS) …
Abstract The 100,000 Genomes Project is a hybrid clinical and research project in which patients and parents are offered genome sequencing for cancer and rare and inherited …
JC Sapp, FM Facio, D Cooper, KL Lewis, E Modlin… - Genetics in …, 2021 - Elsevier
ABSTRACT Purpose Secondary findings (SFs) are present in 1–4% of individuals undergoing genome/exome sequencing. A review of how SFs are disclosed and what …
KAB Goddard, K Lee, AH Buchanan… - Annual review of …, 2022 - annualreviews.org
Actionability is an important concept in medicine that does not have a well-accepted standard definition, nor is there a general consensus on how to establish it. Medical …
IA Sherburn, K Finlay, S Best - European Journal of Human Genetics, 2023 - nature.com
The benefits of genomic testing are primarily reported in rare disease, cancer diagnosis and disease management. However, as research into its application in common, more complex …