Results 291 to 300 of about 122,453 (313)

Whole-Exome/Genome Sequencing and Genomics

Pediatrics, 2013
As medical genetics has progressed from a descriptive entity to one focused on the functional relationship between genes and clinical disorders, emphasis has been placed on genomics. Genomics, a subelement of genetics, is the study of the genome, the sum total of all the genes of an organism.
Wayne W, Grody, Barry H, Thompson, Louanne, Hudgins   +2 more
openaire   +2 more sources

Identification of de novo germline mutations and causal genes for sporadic diseases using trio‐based whole‐exome/genome sequencing

Biological Reviews, 2017
ABSTRACTWhole‐genome or whole‐exome sequencing (WGS/WES) of the affected proband together with normal parents (trio) is commonly adopted to identify de novo germline mutations (DNMs) underlying sporadic cases of various genetic disorders. However, our current knowledge of the occurrence and functional effects of DNMs remains limited and accurately ...
Zi‐Bing Jin, Zhongshan Li, Zhenwei Liu, Yi Jiang, Xue‐Bi Cai, Jinyu Wu   +5 more
openaire   +2 more sources

Sa1624 WHOLE EXOME/GENOME SEQUENCING IN CYCLIC VOMITING SYNDROME REVEALS MULTIPLE CANDIDATE GENES, SUGGESTING A MODEL OF ELEVATED INTRACELLULAR CATIONS AND MITOCHONDRIAL DYSFUNCTION IN VAGAL AFFERENTS

Gastroenterology, 2023
Omri Bar, Laurie Y. Ebenau, Kellee A. Weiner, Mark Mintz, Richard G. Boles   +4 more
openaire   +1 more source

Whole Exome/Genome Sequencing in Cyclic Vomiting Syndrome, a Migraine Variant, Reveals Multiple Candidate Genes, Especially in Cation Channels, Suggesting a Mechanism of Cellular Overexcitation (S41.007)

Neurology, 2023
Omri Bar, Laurie Ebenau, Kellee Weiner, Mark Mintz, Richard Boles   +4 more
openaire   +1 more source

Exome and Whole Genome Sequencing in the Neonatal Intensive Care Unit

Clinics in Perinatology, 2022
Michael Muriello
exaly  

Whole-genome sequencing in clinically diagnosed Charcot–Marie–Tooth disease undiagnosed by whole-exome sequencing

Brain Communications, 2023
Young-Gon Kim
exaly  

Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing

Genes, 2021
Yingjun Yang, Yaoshen Wang, Fanwei Zeng   +2 more
exaly  

A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data

Cancers, 2021
Migle Gabrielaite, Mathias H Torp, Sérgio Andreu-Sanchez   +2 more
exaly  

The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health

Frontiers in Pediatrics, 2021
Renata C Gallagher, Jerry Vockley, Aashish N Adhikari   +2 more
exaly  

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