Results 61 to 70 of about 157,645 (329)

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

Immune DNA signature of T-cell infiltration in breast tumor exomes. [PDF]

, 2016
Tumor infiltrating lymphocytes (TILs) have been associated with favorable prognosis in multiple tumor types. The Cancer Genome Atlas (TCGA) represents the largest collection of cancer molecular data, but lacks detailed information about the immune ...
Armisen, Ricardo, Carter, Hannah, Dow, Michelle, Gárate Calderón, Valentina, Harismendy, Olivier, Levy, Eric, Marty, Rachel, Woo, Brian   +7 more
core   +2 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
openaire   +2 more sources

Circulating tumor cells: advancing personalized therapy in small cell lung cancer patients

Molecular Oncology, EarlyView.
Small cell lung cancer (SCLC) is an aggressive form of lung cancer that spreads rapidly to secondary sites such as the brain and liver. Cancer cells circulating in the blood, “circulating tumor cells” (CTCs), have demonstrated prognostic value in SCLC, and evaluating biomarkers on CTCs could guide treatment decisions such as for PARP inhibitors ...
Prajwol Shrestha, Steven Kao, Veronica K. Cheung, Wendy A. Cooper, Nico van Zandwijk, John E. J. Rasko, Dannel Yeo   +6 more
wiley   +1 more source

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. [PDF]

, 2018
PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted ...
Bellet, Jane, Del Gaudio, Daniela, El-Dairi, Mays, Goldstein, David B, Hendon, Laura G, Jasien, Joan, Jiang, Yong-Hui, Jones, Kelly L, Kansagra, Sujay, Keels, Martha Ann, Kranz, Peter G, Lark, Robert K, Leung, Marco L, McConkie-Rosell, Allyn, Nagaraj, Shashi K, Noel, Richard, Parker, Collette C, Pena, Loren DM, Rapisardo Horn, Sarah, Schoch, Kelly, Shashi, Vandana, Smith, Edward C, Spillmann, Rebecca C, Stong, Nicholas, Sullivan, Jennifer A, Undiagnosed Diseases Network Members, Walley, Nicole, Wechsler, Daniel SG   +27 more
core   +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.
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

Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer

Molecular Oncology, EarlyView.
We used whole exome and RNA‐sequencing to profile divergent genomic and transcriptomic landscapes of microsatellite stable (MSS) and microsatellite instable (MSI) colorectal cancer. Alterations were classified using a computational score for integrative cancer variant annotation and prioritization.
Efstathios‐Iason Vlachavas, Konstantinos Voutetakis, Vivian Kosmidou, Spyridon Tsikalakis, Spyridon Roditis, Konstantinos Pateas, Ryangguk Kim, Kymberleigh Pagel, Stephan Wolf, Gregor Warsow, Antonia Dimitrakopoulou‐Strauss, Georgios N. Zografos, Alexander Pintzas, Johannes Betge, Olga Papadodima, Stefan Wiemann   +15 more
wiley   +1 more source

Gene Analysis for the Sudden Death of Hypertrophic Cardiomyopathy by Whole Exome Sequencing [PDF]

Fayixue Zazhi, 2017
Objective To analyze the related pathogenicity gene mutations in a sudden death of hypertrophic cardiomyopathy （HCM） on whole exome level. Methods Whole exome sequencing （WES） was been performed on a sudden death case sample with pathological features of
XU CHUAN-CHAO, BAI YUN-ZHI, XU XIN-SHU, ET AL.
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

Quantifying single nucleotide variant detection sensitivity in exome sequencing [PDF]

, 2013
BACKGROUND: The targeted capture and sequencing of genomic regions has rapidly demonstrated its utility in genetic studies. Inherent in this technology is considerable heterogeneity of target coverage and this is expected to systematically impact our ...
A McKenna, AJ Coffey, Alison M Meynert, AM Sulonen, Andrew P Jackson, B Lehne, B Timmermann, DN Cooper, E Kalay, H Li, H Li, J Parla, JF Degner, JK Teer, K Fransen, KK Mantripragada, Louise S Bicknell, M Choi, MA Depristo, Martin S Taylor, Matthew E Hurles, MD Mailman, MJ Clark, MN Bainbridge, MW Hahn, R Leinonen, RA Harte, RE Thurman, SB Ng, SB Ng, SB Ng, SS Ajay, The International HapMap 3 Consortium, Y Li, Y Xu   +34 more
core   +1 more source