Results 41 to 50 of about 178,713 (349)

A Novel Genome-Wide Association Study Approach Using Genotyping by Exome Sequencing Leads to the Identification of a Primary Open Angle Glaucoma Associated Inversion Disrupting ADAMTS17 [PDF]

, 2015
Closed breeding populations in the dog in conjunction with advances in gene mapping and sequencing techniques facilitate mapping of autosomal recessive diseases and identification of novel disease-causing variants, often using unorthodox experimental ...
A McKenna, András M. Komáromy, Cathryn Mellersh, D Gilliam, D Gould, D Hubmacher, Degui Zhi, FH Farias, G Lim, H Li, HG Parker, HM Kang, J Guo, J Guo, J Kuchtey, J Kuchtey, J Morales, JT Robinson, L Mosyak, Louise Pettitt, N Safra, N Siva, Oliver P. Forman, P Danecek, Peter Bedford, S Porter, S Purcell, SJ Ahonen   +27 more
core   +3 more sources

Delineation of Mitochondrial DNA Variants From Exome Sequencing Data and Association of Haplogroups With Obesity in Kuwait

Frontiers in Genetics, 2021
Background/ObjectivesWhole-exome sequencing is a valuable tool to determine genetic variations that are associated with rare and common health conditions.
Mohammed Dashti, Hussain Alsaleh, Muthukrishnan Eaaswarkhanth, Sumi Elsa John, Rasheeba Nizam, Motasem Melhem, Prashantha Hebbar, Prem Sharma, Fahd Al-Mulla, Thangavel Alphonse Thanaraj   +9 more
doaj   +1 more source

PCR-free whole exome sequencing: Cost-effective and efficient in detecting rare mutations.

PLoS ONE, 2019
In this study, we describe the development of a PCR-free whole exome sequencing method. Using this method, 2 μg DNA was sufficient for library preparation for whole exome sequencing.
Izumi Yamaguchi, Takashi Watanabe, Osamu Ohara, Yoshinori Hasegawa   +3 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

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

PLoS ONE, 2014
Exome sequencing provides unprecedented insights into cancer biology and pharmacological response. Here we assess these two parameters for the NCI-60, which is among the richest genomic and pharmacological publicly available cancer cell line databases ...
William C Reinhold, Sudhir Varma, Fabricio Sousa, Margot Sunshine, Ogan D Abaan, Sean R Davis, Spencer W Reinhold, Kurt W Kohn, Joel Morris, Paul S Meltzer, James H Doroshow, Yves Pommier   +11 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

Blastic plasmacytoid dendritic cell neoplasm: Genomics mark epigenetic dysregulation as a primary therapeutic target [PDF]

, 2019
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive hematologic malignancy for which there is still no effective B therapy.
Abate F., Agostinelli C., Amente S., Berti E., Bertolini F., Brundu F., Cerroni L., Dellino G. I., Etebari M., Facchetti F., Falini B., Fuligni F., Indio V., Laginestra M. A., Melle F., Motta G., Orecchioni S., Paulli M., Piccioni R., Pileri A., Pileri S. A., Pimpinelli N., Rabadan R., Rossi M., Sabattini E., Sapienza M. R., Tabanelli V., Talarico G., Tarantino G., Tripodo C., Truni M.   +30 more
core   +2 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

A Pilot Study Comparing HPV-Positive and HPV-Negative Head and Neck Squamous Cell Carcinomas by Whole Exome Sequencing. [PDF]

, 2012
Background. Next-generation sequencing of cancers has identified important therapeutic targets and biomarkers. The goal of this pilot study was to compare the genetic changes in a human papillomavirus- (HPV-)positive and an HPV-negative head and neck ...
Barrett, John W, Basmaji, John, Boutros, Paul, Chan-Seng-Yue, Michelle, Dhaliwal, Sandeep, Dowthwaite, Samuel, Franklin, Jason H, Fung, Kevin, Koropatnick, James, Kwan, Keith, Lambin, Philippe, Mymryk, Joe S, Nichols, Anthony C, Palma, David A, Starmans, Maud HW, Szeto, Christopher CT, Todorovic, Biljana, Wehrli, Bret, Xu, Wei, Yoo, John   +19 more
core   +3 more sources

Incidental Medical Information in Whole-Exome Sequencing [PDF]

Pediatrics, 2012
Genomic technologies, such as whole-exome sequencing, are a powerful tool in genetic research. Such testing yields a great deal of incidental medical information, or medical information not related to the primary research target. We describe the management of incidental medical information derived from whole-exome sequencing in the research context. We
Benjamin D, Solomon, Donald W, Hadley, Daniel E, Pineda-Alvarez, Aparna, Kamat, Jamie K, Teer, Praveen F, Cherukuri, Nancy F, Hansen, Pedro, Cruz, Alice C, Young, Benjamin E, Berkman, Settara C, Chandrasekharappa, James C, Mullikin   +11 more
openaire   +2 more sources