Results 91 to 100 of about 12,735 (119)

Clinical exome sequencing—Mistakes and caveats

Human Mutation, 2022
Jordi Corominas, Sanne P Smeekens, Marcel R Nelen   +2 more
exaly  

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Cell, 2020
F Kyle Satterstrom, Jack A Kośmicki, Jiebiao Wang   +2 more
exaly  

Exome Sequencing and Clinical Diagnosis

JAMA, 2020
Jan M, Friedman, Kenneth Lyons, Jones, John C, Carey   +2 more
openaire   +2 more sources

Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions

Genetics in Medicine, 2022
Tara A Lavelle, Joshua T Cohen, Peter J Neumann   +2 more
exaly  

Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy

Journal of the American Heart Association, 2020
Mathew Wallis, Ivan Macciocca, Melissa Martyn   +2 more
exaly  

Exome Sequencing

2021
openaire   +1 more source

The value of exomes across the ages

European Journal of Human Genetics, 2023
openaire   +2 more sources

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

Proceedings of the National Academy of Sciences of the United States of America, 2015
Aziz Belkadi, Alexandre Bolze, Yuval Itan   +2 more
exaly  

Exomes in the clinic

Nature Reviews Genetics, 2013
openaire   +1 more source

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

Genetics in Medicine, 2015
Zoe Powis, Elizabeth C Chao, Wenqi Zeng   +2 more
exaly