Results 211 to 220 of about 124,431 (304)

Whole-exome sequencing increases variant detection compared to karyotyping and CMA in an unselected FGR cohort. [PDF]

Sci Rep
Liu J, Lin K, Mai Z, Zhang Y, Li X, Meng X, Chen H.   +6 more
europepmc   +1 more source

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source

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

Whole exome sequencing

, 2014
Bou de Pieri, Francesc, Universitat Autònoma de Barcelona. Facultat de Biociències   +1 more
openaire   +1 more source

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

Mass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik, Petr Lapcik, Pavla Bouchalova, Pavel Bouchal   +3 more
wiley   +1 more source

Correction: Genetic variations associated with immediate hypersensitivity reactions to iodinated contrast media: A whole exome sequencing study. [PDF]

PLoS One
PLOS One Staff.
europepmc   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

Genomic characterization of pulmonary sarcomatoid adenocarcinoma: a paired whole-exome sequencing study of carcinomatous and sarcomatous components. [PDF]

Front Oncol
Lin J, Yang Y, Liu M, Yang F, Jiang S, Xu L, Zheng X, Wei H, Wen X, Xu G, Weng R, Zheng J, Xiao S.   +12 more
europepmc   +1 more source

Unmasking rare thalassemia variants through whole-exome sequencing in Huadu District, China: An observational study. [PDF]

Medicine (Baltimore)
Guowei R, Yan J, Jingxia X, Changlv J, Lihua Z, Bizhen Y, Jingnan B, Cuijin T, Yulan H, HaoHao L, Linhua J.   +10 more
europepmc   +1 more source