Results 11 to 20 of about 178,485 (305)

Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease [PDF]

, 2017
Context.-With the decrease in the cost of sequencing, the clinical testing paradigm has shifted from single gene to gene panel and now whole-exome and whole-genome sequencing.
Ferreira-Gonzalez, Andrea, Hegde, Madhuri, Mao, Rong, Santani, Avni, Voelkerding, Karl V., Weck, Karen E.   +5 more
core   +3 more sources

An heuristic filtering tool to identify phenotype-associated genetic variants applied to human intellectual disability and canine coat colors [PDF]

, 2015
Background: Identification of one or several disease causing variant(s) from the large collection of variants present in an individual is often achieved by the sequential use of heuristic filters.
Bosmans, Tim, Broeckx, Bart, Coopman, Frank, Deforce, Dieter, Dingemanse, Walter, Gielen, Ingrid, Saunders, Jimmy, Van Nieuwerburgh, Filip, Verhoeven, Geert   +8 more
core   +5 more sources

Development and performance of a targeted whole exome sequencing enrichment kit for the dog (Canis Familiaris Build 3.1) [PDF]

, 2014
Whole exome sequencing is a technique that aims to selectively sequence all exons of protein-coding genes. A canine whole exome sequencing enrichment kit was designed based on the latest canine reference genome (build 3.1.72).
Bavegems, Valérie, Broeckx, Bart, Coopman, Frank, De Keulenaer, Sarah, De Meester, Ellen, Deforce, Dieter, Van Nieuwerburgh, Filip, Verhoeven, Geert   +7 more
core   +2 more sources

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

Apert's syndrome: Study by whole exome sequencing

Genes and Diseases, 2018
In the present study we attempted a parent–child trio, whole exome sequencing (WES) approach to study Apert's syndrome. Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System that revealed the presence of ...
Anjana Munshi, Preeti Khetarpal, Satrupa Das, Venkateshwar Rao, Monica Valecha, Manita Bansal, Roshan Kumar   +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

Whole-Exome Sequencing in Familial Parkinson Disease [PDF]

, 2016
IMPORTANCE: Parkinson disease (PD) is a progressive neurodegenerative disease for which susceptibility is linked to genetic and environmental risk factors.
Boerwinkle, Eric, Bowling, Kevin, Coban-Akdemir, Zeynep H., Doheny, Kimberly, Farlow, Janice L., Foroud, Tatiana, Gambin, Tomasz, Gibbs, Richard A., Gu, Shen, Hetrick, Kurt, Jain, Preti, Jankovic, Joseph, Jhangiani, Shalini, Kaw, Kaveeta, Lai, Dongbing, Lin, Hai, Ling, Hua, Liu, Yunlong, Lupski, James R., Muzny, Donna, Myers, Richard M., Porter, Paula, Pugh, Elizabeth, Robak, Laurie A., Shulman, Joshua M., White, Janson   +25 more
core   +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

Diagnostic utility of exome sequencing for inherited peripheral neuropathies

Нервно-мышечные болезни, 2020
Introduction. Hereditary motor and sensory neuropathies, a highly genetic heterogeneous group of disorders, have a phenotype caused by peripheral nerve damage.Purpose of the study – to assess the extent of genetic heterogeneity of hereditary motor and ...
O. A. Shchagina, O. P. Ryzhkova, A. L. Chukhrova, T. V. Milovidova, P. Gundorova, O. L. Mironovich, A. A. Orlova, M. D. Orlova, A. V. Poliakov   +8 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