Results 21 to 30 of about 122,559 (261)

Exome Sequencing to Predict Neoantigens in Melanoma [PDF]

Cancer Immunology Research, 2015
Abstract The ability to use circulating peripheral blood cells and matched tumor sequencing data as a basis for neoantigen prediction has exciting possibilities for application in the personalized treatment of cancer patients. We have used a high-throughput screening approach, combining whole-exome sequence data, mRNA microarrays, and
Pritchard, Antonia L, Burel, Julie G, Neller, Michelle A, Hayward, Nicholas K, Lopez, J Alejandro, Fatho, Martina, Lennerz, Volker, Woelfel, Thomas, Schmidt, Christopher W   +8 more
openaire   +5 more sources

Exome-assistant: a rapid and easy detection of disease-related genes and genetic variations from exome sequencing

BMC Genomics, 2012
Background Protein-coding regions in human genes harbor 85% of the mutations that are associated with disease-related traits. Compared with whole-genome sequencing of complex samples, exome sequencing serves as an alternative option because of its ...
Liu Qi, Shen Enjian, Min Qingjie, Li Xueying, Wang Xin, Li Xianfeng, Sun Zhong Sheng, Wu Jinyu   +7 more
doaj   +1 more source

Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

Molecular Genetics & Genomic Medicine, 2020
Background Establishing a genetic diagnosis for individuals with intellectual disability (ID) benefits patients and their families as it may inform the prognosis, lead to appropriate therapy, and facilitate access to medical and supportive services ...
Aniko Sabo, David Murdock, Shannon Dugan, Qingchang Meng, Marie‐Claude Gingras, Jianhong Hu, Donna Muzny, Richard Gibbs   +7 more
doaj   +1 more source

Exome Sequencing in Suspected Monogenic Dyslipidemias [PDF]

Circulation: Cardiovascular Genetics, 2015
Background— Exome sequencing is a promising tool for gene mapping in Mendelian disorders. We used this technique in an attempt to identify novel genes underlying monogenic dyslipidemias. Methods and Results— We performed exome sequencing on 213 selected family members
Stitziel, N., Peloso, G., Abifadel, M., CEFALU', Angelo Baldassare, Fouchier, S., Motazacker, M., Tada, H., Larach, D., Awan, Z., Haller, J., Pullinger, C., Varret, M., Rabès, J., NOTO, Davide, Tarugi, P., Kawashiri, M., Nohara, A., Yamagishi, M., Risman, M., Deo, R., Ruel, I., Shendure, J., Nickerson, D., Wilson, J., Rich, S., Gupta, N., Farlow, D., Neale, B., Daly, M., Kane, J., Freeman, M., Genest, J., Rader, D., Mabuchi, H., Kastelein, J., Hovingh, G., AVERNA, Maurizio, Gabriel, S., Boileau, C., Kathiresan, S.   +39 more
openaire   +6 more sources

When moments matter: Finding answers with rapid exome sequencing

Molecular Genetics & Genomic Medicine, 2020
Background When time is of the essence in critical care cases, a fast molecular diagnosis is often necessary to help health care providers quickly determine best next steps for treatments, prognosis, and counseling of their patients.
Zöe Powis, Kelly D. Farwell Hagman, Kirsten Blanco, Margaret Au, John M. Graham, Kathryn Singh, Natalie Gallant, Linda M. Randolph, Meghan Towne, Jesse Hunter, Deepali N. Shinde, Erika Palmaer, Brian Schoenfeld, Sha Tang   +13 more
doaj   +1 more source

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

Exome Sequencing in Clinical Hepatology

Hepatology, 2019
The clinical relevance of the Human Genome Project and next‐generation sequencing technology was demonstrated for the first time in 2009, when whole‐exome sequencing (WES) provided the definitive diagnosis of congenital chloride diarrhea in an infant with presumed renal salt‐wasting disease. Over the past decade, numerous studies have shown the utility
Sílvia, Vilarinho, Pramod K, Mistry
openaire   +3 more sources

SavvyCNV: Genome-wide CNV calling from off-target reads.

PLoS Computational Biology, 2022
Identifying copy number variants (CNVs) can provide diagnoses to patients and provide important biological insights into human health and disease. Current exome and targeted sequencing approaches cannot detect clinically and biologically-relevant CNVs ...
Thomas W Laver, Elisa De Franco, Matthew B Johnson, Kashyap A Patel, Sian Ellard, Michael N Weedon, Sarah E Flanagan, Matthew N Wakeling   +7 more
doaj   +1 more source

Genotype and Phenotype Correlation in Patients with Comorbid Epilepsy and Intellectual Disability

Graduate Medical Education Research Journal, 2019
Mentor: Jill Clayton-Smith Program: Neurology Epilepsy and intellectual disability comorbidity is a common condition with great medical and psychological impact on a patient’s life and their family members.
Mohamed Taha, Jill Clayton-Smith
doaj   +1 more source

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