Results 211 to 220 of about 1,021,105 (352)

Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience. [PDF]

Mol Genet Genomic Med
Lin HH, Tsai MM, Chen HA, Hsu RH, Lin YS, Lin YL, Hsu C, Chien YH, Hwu WL, Lee NC.   +9 more
europepmc   +1 more source

Advantages of Exome Sequencing Over Panel Testing for Individuals With a Seizure Indication

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Our aim was to investigate the advantages of exome sequencing versus panel testing for patients with unexplained seizures. Methods We reviewed the diagnostic outcomes of exome sequencing by a commercial genetics laboratory for more than 16 000 individuals with a clinical history of seizures or suspected seizures.
Michelle M. Morrow, Elizabeth Butler, Melanie P. Napier, Lindsay Havens‐Dyer, Annabelle Tuttle, Patricia C. Lopes, Britt A. Johnson, Paul Kruszka, Kirsty McWalter   +8 more
wiley   +1 more source

Targeted analysis of whole exome sequencing in Thai patients with neonatal diabetes. [PDF]

Hum Genet
Plengvidhya N, Tangjarusritaratorn T, Teerawattanapong N, Narkdontri T, Innang S, Songlilitchuwong S, Suthon S, Tangjittipokin W.   +7 more
europepmc   +1 more source

Identification of rare variants in Alzheimer\u27s disease [PDF]

, 2014
Cruchaga, Carlos, Lord, Jenny, Lu, Alexander J   +2 more
core   +1 more source

Pharmacogenomics of Major Depressive Disorder in Indigenous Amazonian Populations

Clinical Pharmacology &Therapeutics, EarlyView.
Major depressive disorder is a highly prevalent psychological disorder worldwide and its main treatment is the use of Selective Serotonin Reuptake Inhibitors. However, few studies have demonstrated the relationship between the presence of genetic variants in pharmacogenes and the efficacy of these drugs, especially in populations with a unique genetic ...
Kaio Evandro Cardoso Aguiar, Natasha Monte da Silva, Juliana Carla Gomes Rodrigues, André Maurício Ribeiro‐dos‐Santos, Sandro José de Souza, Ândrea Ribeiro‐dos‐Santos, João Farias Guerreiro, Sidney Emanuel Batista dos Santos, Marianne Rodrigues Fernandes, Ney Pereira Carneiro dos Santos   +9 more
wiley   +1 more source

Measuring the health benefits of genome and exome sequencing: a systematic review of economic evaluations. [PDF]

Front Public Health
Riccio M, Rosso A, Siena LM, Baccolini V, Migliara G, Sciurti A, Isonne C, Iera J, Pierri F, Marzuillo C, De Vito C, La Torre G, Villari P.   +12 more
europepmc   +1 more source

Whole‐exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data [PDF]

, 2018
D. Matthew Gianferante, Melissa Rotunno, Michael Dean, Weiyin Zhou, Belynda Hicks, Katrina Wyatt, Kristine Jones, Mingyi Wang, Bin Zhu, Alisa M. Goldstein, Kari G. Rabe   +10 more
openalex   +1 more source

Exome Sequencing (ES): An Efficient Method to Sequence the Genomic Coding Regions [PDF]

, 2020
Fakher Rahim
openalex   +1 more source

Preoperative Detection of Dual TERT Promoter Mutations in Thyroid Cancer: A Case Series

Diagnostic Cytopathology, EarlyView.
ABSTRACT Telomerase reverse transcriptase promoter (TERTp) mutations are associated with aggressive thyroid cancer and are most frequently found in anaplastic and poorly differentiated thyroid cancer. Pre‐operative thyroid nodule molecular testing can detect TERTp, denoting a high risk of malignancy and possible aggressive clinical features such as ...
Amir Harari, Jennifer Huiras, Yang Chen, Mohammed Alshalalfa, Yangyang Hao, Joshua P. Klopper, Richard T. Kloos, Bianca J. Vazquez   +7 more
wiley   +1 more source

A practical framework for predicting splicing single nucleotide variants in exome sequencing. [PDF]

NAR Genom Bioinform
Utsuno Y, Hamanaka K, Sakamoto M, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Miyatake S, Mizuguchi T, Matsumoto N.   +9 more
europepmc   +1 more source