Results 41 to 50 of about 193,929 (313)

Semantic prioritization of novel causative genomic variants.

PLoS Computational Biology, 2017
Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today.
Imane Boudellioua, Rozaimi B Mahamad Razali, Maxat Kulmanov, Yasmeen Hashish, Vladimir B Bajic, Eva Goncalves-Serra, Nadia Schoenmakers, Georgios V Gkoutos, Paul N Schofield, Robert Hoehndorf   +9 more
doaj   +1 more source

Whole Exome Sequencing: The Tip of the Iceberg

Journal of the College of Physicians and Surgeons Pakistan, 2022
Null.
openaire   +3 more sources

Whole-exome sequencing of rectal neuroendocrine tumors

Endocrine-Related Cancer, 2023
The genetic characteristics of rectal neuroendocrine tumors (R-NETs) were poorly understood. Depicting the genetic characteristics may provide a biological basis for prognosis prediction and novel treatment development. Tissues of 18 R-NET patients were analyzed using whole-exome sequencing.
Yuanliang Li, Yiying Guo, Zixuan Cheng, Chao Tian, Yingying Chen, Ruao Chen, Fuhuan Yu, Yanfen Shi, Fei Su, Shuhua Zhao, Zhizheng Wang, Jie Luo, Huangying Tan   +12 more
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Whole exome sequencing for diagnosis of hereditary thrombocytopenia

Medicine, 2020
Abstract Hereditary thrombocytopenia comprises extremely diverse diseases that are difficult to diagnose by phenotypes alone. Definite diagnoses are helpful for patient (Pt) management. To evaluate the role of whole exome sequencing (WES) in these Pts.
Supang Maneesri le Grand, Vorasuk Shotelersuk, Vorasuk Shotelersuk, Chupong Ittiwut, Chupong Ittiwut, Darintr Sosothikul, Netchanok Leela-Adisorn, Benjaporn Akkawat, Rungnapa Ittiwut, Rungnapa Ittiwut, Ponthip Mekchay, Ponlapat Rojnuckarin, Suwanna Muanpetch, Weerapan Khovidhunkit, Kanya Suphapeetiporn, Kanya Suphapeetiporn   +15 more
openaire   +3 more sources

SECNVs: A Simulator of Copy Number Variants and Whole-Exome Sequences From Reference Genomes

Frontiers in Genetics, 2020
Copy number variants are duplications and deletions of the genome that play an important role in phenotypic changes and human disease. Many software applications have been developed to detect copy number variants using either whole-genome sequencing or ...
Yue Xing, Yue Xing, Yue Xing, Alan R. Dabney, Xiao Li, Guosong Wang, Clare A. Gill, Claudio Casola   +7 more
doaj   +1 more source

Whole Exome Sequencing Identifies Genes Associated With Non-Obstructive Azoospermia

Frontiers in Genetics, 2022
Background: Non-obstructive azoospermia (NOA) affects nearly 1% of men; however, the landscape of the causative genes is largely unknown.Objective: To explore the genetic etiology which is the fundamental cause of NOA, a prospective case-control study ...
Hongguo Zhang, Wei Li, Yuting Jiang, Jia Li, Mucheng Chen, Ruixue Wang, Jing Zhao, Zhiyu Peng, Hui Huang, Ruizhi Liu   +9 more
doaj   +1 more source

Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma [PDF]

Endocrinology and Metabolism, 2020
Background Pheochromocytoma and paragangliomas (PPGL) are known as tumors with the highest level of heritability, approximately 30% of all cases. Clinical practice guidelines of PPGL recommend genetic testing for germline variants in all patients.
Soo Hyun Seo, Jung Hee Kim, Man Jin Kim, Sung Im Cho, Su Jin Kim, Hyein Kang, Chan Soo Shin, Sung Sup Park, Kyu Eun Lee, Moon-Woo Seong   +9 more
doaj   +1 more source

Whole-Exome Sequencing in Familial Parkinson Disease [PDF]

JAMA Neurology, 2016
Parkinson disease (PD) is a progressive neurodegenerative disease for which susceptibility is linked to genetic and environmental risk factors.To identify genetic variants contributing to disease risk in familial PD.A 2-stage study design that included a discovery cohort of families with PD and a replication cohort of familial probands was used. In the
Dongbing Lai, Hua Ling, Janice L. Farlow, Paula Porter, Paula Porter, Elizabeth W. Pugh, Kimberly F. Doheny, Yunlong Liu, Hai Lin, Kaveeta Kaw, Kaveeta Kaw, Eric Boerwinkle, Eric Boerwinkle, Donna M. Muzny, Richard A. Gibbs, Zeynep H. Coban-Akdemir, Laurie Robak, James R. Lupski, Janson White, Joshua M. Shulman, Shalini N. Jhangiani, Kurt N. Hetrick, Joseph Jankovic, Tatiana Foroud, Tomasz Gambin, Shen Gu, Preti Jain, Richard M. Myers, Kevin M. Bowling   +28 more
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Genotype–Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre

Acta Dermato-Venereologica, 2018
Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing as a rapid and efficient diagnostic strategy in several genodermatoses.
Vamsi K. Yenamandra, Shamsudheen K. Vellarikkal, Madhumita R. Chowdhury, Rijith Jayarajan, Ankit Verma, Vinod Scaria, Sridhar Sivasubbu, Subrata Basu Ray, Amit K. Dinda, Madhulika Kabra, Vinod K. Sharma, Gomathy Sethuraman   +11 more
doaj   +1 more source

Diagnostic value of partial exome sequencing in developmental disorders. [PDF]

PLoS ONE, 2018
Although intellectual disability is one of the major indications for genetic counselling, there are no homogenous diagnostic algorithms for molecular testing. While whole exome sequencing is increasingly applied, we questioned whether analyzing a partial
Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schrock, Nataliya Di Donato, Andreas Rump   +19 more
doaj   +1 more source