Results 21 to 30 of about 124,431 (304)

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. [PDF]

, 2011
Background: Primary lymphoedema describes a chronic, frequently progressive, failure of lymphatic drainage. This disorder is frequently genetic in origin, and a multigenerational family in which eight individuals developed postnatal lymphoedema of all ...
Ostergaard, P, Connell, Fiona C., Simpson, MA, S. Mansour, G. Brice, P. S. Mortimer, Connell, FC, Jeffery, S, M. A. Simpson, Child, Anne H., Mansour, S, R. Trembath, F. C. Connell, A. Onoufriadis, Trembath, Richard, Mortimer, Peter S, Mortimer, Peter S., Mansour, Sahar, Kalidas, Kamini, Trembath, R, Brice, Glen, Child, AH, P. Ostergaard, Jeffery, Steve, Mortimer, PS, Ostergaard, Pia, J. Hwang, K. Kalidas, A. H. Child, Hwang, J, Simpson, Michael A, Onoufriadis, A, Connell, Fiona, S. Jeffery, Simpson, Michael A., Brice, G, Hwang, Jae, Kalidas, K, Onoufriadis, Alexandros, Child, Anne H   +39 more
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Whole-exome sequencing result.

, 2023
BackgroundNeurogenetic disorders (NGDs) are complex Mendelian disorders that affect the neurological system. A molecular diagnosis will provide more information about pathophysiology, prognosis, and therapy, including future genetic therapy options ...
Kania Diantika (17283553), Elisabeth Siti Herini (13949002), Andika Priamas Nugrahanto (17283550), Kristy Iskandar (225273), Marissa Leviani Hadiyanto (17283547), Agung Triono (14035002), Veronica Wulan Wijayanti (17283556)   +6 more
core   +1 more source

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

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

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

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

Proceedings of the National Academy of Sciences, 2014
Abstract We compared whole-exome sequencing (WES) and whole-genome sequencing (WGS) in six unrelated individuals. In the regions targeted by WES capture (81.5% of the consensus coding genome), the mean numbers of single-nucleotide variants (SNVs) and small insertions/deletions (indels) detected per sample were 84,192 and 13,325 ...
Belkadi, Aziz, Bolze, Alexandre, Itan, Yuval, Cobat, Aurelie, Vincent, Quentin B, Antipenko, Alexander, Shang, Lei, Boisson, Bertrand, Casanova, Jean-Laurent, Abel, Laurent   +9 more
openaire   +2 more sources

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

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

Whole‐exome sequencing for variant discovery in blepharospasm [PDF]

Molecular Genetics & Genomic Medicine, 2018
AbstractBackgroundBlepharospasm (BSP) is a type of focal dystonia characterized by involuntary orbicularis oculi spasms that are usually bilateral, synchronous, and symmetrical. Despite strong evidence for genetic contributions to BSP, progress in the field has been constrained by small cohorts, incomplete penetrance, and late age of onset.
Jun Tian, Satya R. Vemula, Jianfeng Xiao, Enza Maria Valente, Giovanni Defazio, Simona Petrucci, Angelo Fabio Gigante, Monika Rudzińska‐Bar, Zbigniew K. Wszolek, Kathleen D. Kennelly, Ryan J. Uitti, Jay A. van Gerpen, Peter Hedera, Elizabeth J. Trimble, Mark S. LeDoux   +14 more
openaire   +5 more sources

WEGS: a cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome [PDF]

, 2023
Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding DNA regions and helps elucidate the genetic underpinnings of human health and diseases.
Wei, Claire, Schindewolf, Marc, Bourque, Guillaume, Baumgartner, Iris, Mooser, Vincent, Taliun, Daniel, Paccard, Antoine, Perley, Danielle, Bourgey, Mathieu, Caron, Elizabeth, Asbah, Nimara Bader, Lefebvre, François, Döring, Yvonne, Eveleigh, Robert, Ravindran, Praveen Nadukkalam, Trajanoska, Katerina, St-Cry, Janick, Ragoussis, Jiannis, Bhérer, Claude, Lepage, Pierre   +19 more
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