Results 31 to 40 of about 157,645 (329)

Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing [PDF]

Diabetes & Metabolism Journal, 2015
BackgroundAlström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness.
Min Kyeong Kim, Soo Heon Kwak, Shinae Kang, Hye Seung Jung, Young Min Cho, Seong Yeon Kim, Kyong Soo Park   +6 more
doaj   +1 more source

Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report

Journal of Medical Case Reports, 2023
Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination.
Niharika Duggirala, Kathie J. Ngo, Sabrina M. Pagnoni, Alberto L. Rosa, Brent L. Fogel   +4 more
doaj   +1 more source

Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay

Frontiers in Genetics, 2021
Objective: 1q44 microdeletion syndrome is difficult to diagnose due to the wide phenotypic spectrum and strong genetic heterogeneity. We explore the correlation between the chromosome microdeletions and phenotype in a child with 1q44 microdeletion ...
Yiehen Tung, Haiying Lu, Wenxin Lin, Tingting Huang, Samuel Kim, Guo Hu, Gang Zhang, Guo Zheng   +7 more
doaj   +1 more source

From Genomes to GENE-omes: Exome Sequencing Concept and Applications in Crop Improvement

Frontiers in Plant Science, 2017
Exome sequencing represents targeted capture and sequencing of 1–2% of ‘high-value genomic regions’ (subset of the genome) which are enriched for functional variants and harbors low level of repetitive regions.
Parampreet Kaur, Kishor Gaikwad
doaj   +1 more source

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis‐van Creveld syndrome

Molecular Genetics & Genomic Medicine, 2023
Background Pathogenic mutations in EVC or EVC2 gene can lead to Ellis‐van Creveld (EvC) syndrome, which is a rare autosomal recessive skeletal dysplasia disorder.
Jianlong Zhuang, Shufen Liu, Junyu Wang, Yu'e Chen, Hegan Zhang, Yuying Jiang, Gaoxiong Wang, Chunnuan Chen   +7 more
doaj   +1 more source

Analysis of Archived Residual Newborn Screening Blood Spots After Whole Genome Amplification [PDF]

, 2015
Deidentified newborn screening bloodspot samples (NBS) represent a valuable potential resource for genomic research if impediments to whole exome sequencing of NBS deoxyribonucleic acid (DNA), including the small amount of genomic DNA in NBS material ...
Benstead-Hume, Graeme, Cantarel, Brandi L., Farrell, Andrew, Finnell, Richard H., Lei, Yunping, Reese, Justin, Weaver, Daniel, Zhu, Huiping   +7 more
core   +3 more sources

Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis. [PDF]

, 2020
BACKGROUND: Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features.
Barker, R, Cockell, A, Haworth, A, Homfray, T, Pemberton, L, Ramachandran, V   +5 more
core   +1 more source

Detection of Somatic Copy Number Alterations in Cancer Using Targeted Exome Capture Sequencing

Neoplasia: An International Journal for Oncology Research, 2011
The research community at large is expending considerable resources to sequence the coding region of the genomes of tumors and other human diseases using targeted exome capture (i.e., “whole exome sequencing”).
Robert J. Lonigro, Catherine S. Grasso, Dan R. Robinson, Xiaojun Jing, Yi-Mi Wu, Xuhong Cao, Michael J. Quist, Scott A. Tomlins, Kenneth J. Pienta, Arul M. Chinnaiyan   +9 more
doaj   +1 more source

Using linkage analysis of large pedigrees to guide association analyses [PDF]

, 2011
To date, genome-wide association studies have yielded discoveries of common variants that partly explain familial aggregation of diseases and traits. Researchers are now turning their attention to less common variants because the price of sequencing has ...
Chunyu Liu, E Lander, Gyungah Jun, J Dupuis, Josée Dupuis, K Roeder, L Almasy, Mark W Logue, Seung-Hoan Choi, T Wang   +9 more
core   +3 more sources

Detecting identity by descent and homozygosity mapping in whole-exome sequencing data. [PDF]

PLoS ONE, 2012
The detection of genetic segments of Identical by Descent (IBD) in Genome-Wide Association Studies has proven successful in pinpointing genetic relatedness between reportedly unrelated individuals and leveraging such regions to shortlist candidate genes.
Zhong Zhuang, Alexander Gusev, Judy Cho, Itsik Pe'er   +3 more
doaj   +1 more source