Results 71 to 80 of about 357,319 (349)

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets

Nature Communications, 2015
Pancreatic ductal adenocarcinoma (PDA) has a dismal prognosis and insights into both disease etiology and targeted intervention are needed. A total of 109 micro-dissected PDA cases were subjected to whole-exome sequencing. Microdissection enriches tumour
A. Witkiewicz, E. McMillan, U. Balaji, GuemHee Baek, Wan-chi Lin, J. Mansour, M. Mollaee, K. Wagner, P. Koduru, A. Yopp, M. Choti, C. Yeo, P. Mccue, M. White, E. Knudsen   +14 more
semanticscholar   +1 more source

Whole-exome sequencing in familial keratoconus: the challenges of a genetically complex disorder [PDF]

, 2019
Purpose: The underlying genetic causes of keratoconus are essentially unknown. Here, we conducted whole-exome sequencing in 2 Brazilian families with keratoconus.
Thayne Woycinck Kowalski (7574621), Lavinia Schuler-Faccini (3622340), Otávio de Azevedo Magalhães (7574618), Gabriela Elis Wachholz (7574624)   +3 more
core   +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

Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics

Frontiers in Genetics, 2019
There is a growing attention toward personalized medicine. This is led by a fundamental shift from the ‘one size fits all’ paradigm for treatment of patients with conditions or predisposition to diseases, to one that embraces novel approaches, such as ...
Pawel Suwinski, ChuangKee Ong, Maurice H. T. Ling, Yang Ming Poh, Asif M. Khan, Hui San Ong   +5 more
semanticscholar   +1 more source

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.
Ponthip Mekchay, Chupong Ittiwut, Rungnapa Ittiwut, Benjaporn Akkawat, Supang Maneesri Le Grand, Netchanok Leela-adisorn, Suwanna Muanpetch, Weerapan Khovidhunkit, Darintr Sosothikul, Vorasuk Shotelersuk, Kanya Suphapeetiporn, Ponlapat Rojnuckarin   +11 more
openaire   +2 more sources

The GENCODE exome: sequencing the complete human exome [PDF]

, 2011
Sequencing the coding regions, the exome, of the human genome is one of the major current strategies to identify low frequency and rare variants associated with human disease traits.
Palta, P, Turner, DJ, Harrow, J, Lehesjoki, AE, Eleanor Drury, Kokocinski, Felix, Drury, Eleanor, Palotie, A, Scott, Carol E, Hubbard, TJ, Palta, Priit, Scott, CE, Sarah Hunt, Lehesjoki, Anna-Elina, Tim J Hubbard, Harrow, Jen, Hunt, Sarah, Leproust, EM, Felix Kokocinski, Joyce, Christopher J, Joyce, CJ, Carol E Scott, Jen Harrow, Anna-Elina Lehesjoki, Maria S Calafato, Aarno Palotie, Calafato, MS, Priit Palta, Hunt, S, Kokocinski, F, Christopher J Joyce, Palotie, Aarno, Turner, Daniel J, Coffey, AJ, Coffey, Alison J, Alison J Coffey, Leproust, Emily M, Drury, E, Daniel J Turner, Hubbard, Tim, Calafato, Maria S, Emily M LeProust, Hubbard, Tim J; id_orcid   +42 more
core   +1 more source

Whole Exome Sequencing Reveals the Major Genetic Contributors to Non-Syndromic Tetralogy of Fallot

Circulation Research, 2019
Rationale: Familial recurrence studies provide strong evidence for a genetic component to the predisposition to sporadic, nonsyndromic Tetralogy of Fallot (TOF), the most common cyanotic congenital heart disease phenotype. Rare genetic variants have been
D. Page, Matthieu J. Miossec, S. Williams, Richard M Monaghan, E. Fotiou, H. Cordell, Louise Sutcliffe, A. Topf, M. Bourgey, G. Bourque, R. Eveleigh, Sally L. Dunwoodie, D. Winlaw, S. Bhattacharya, J. Breckpot, K. Devriendt, M. Gewillig, J. Brook, Kerry Setchfield, Frances A. Bu’Lock, J. O’Sullivan, G. Stuart, C. Bezzina, B. J. Mulder, A. Postma, J.R. Bentham, M. Baron, S. Bhaskar, G. Black, William G. Newman, Kathryn E. Hentges, G. Lathrop, M. Santibanez-Koref, B. Keavney   +33 more
semanticscholar   +1 more source

Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention

Journal of Ovarian Research, 2020
Background The loss of ovarian function in women, referred to as premature ovarian insufficiency (POI), is associated with a series of concomitant diseases. POI is genetically heterogeneous, and in most cases, the etiology is unknown. Methods Whole-exome
Hongli Liu, Xiaoli Wei, Y. Sha, Wensheng Liu, Haijie Gao, Jin Lin, Youzhu Li, Yaling Tang, Yifeng Wang, Yanlong Wang, Zhiying Su   +10 more
semanticscholar   +1 more source

A stroke gene panel for whole-exome sequencing [PDF]

European Journal of Human Genetics, 2018
Extensive analyses of known monogenic causes of stroke by whole-exome/genome sequencing are technically possible today. We here aimed to compile a comprehensive panel of genes associated with monogenic causes of stroke for use in clinical and research situations.
Andreea, Ilinca, Sofie, Samuelsson, Paul, Piccinelli, Maria, Soller, Ulf, Kristoffersson, Arne G, Lindgren   +5 more
openaire   +2 more sources

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