Results 291 to 300 of about 1,041,152 (399)

Trio Exome Sequencing in VACTERL Association. [PDF]

Kidney Int Rep
Ćomić J, Tilch E, Riedhammer KM, Brugger M, Brunet T, Eyring K, Vill K, Redler S, Tasic V, Schmiedeke E, Schäfer FM, Abazi-Emini N, Jenetzky E, Schwarzer N, Widenmann A, Lacher M, Zech M, Grasshoff-Derr S, Geßner M, Kabs C, Seitz B, Heydweiller AC, Muensterer O, Lange-Sperandio B, Rolle U, Schumacher J, Braunisch MC, Berutti R, Reutter H, Hoefele J.   +29 more
europepmc   +1 more source

Somatic mutations reveal complex metastatic seeding from multifocal primary prostate cancer

International Journal of Cancer, Volume 152, Issue 5, Page 945-951, 1 March 2023., 2023
What's new? Intrapatient tumor heterogeneity and clonal evolution of primary tumor foci into metastatic disease remain significant challenges for prostate cancer treatment. Here, investigating metastatic lesion origins, the authors compared somatic mutations in spatially distinct primary foci to mutations in recurring disease in seven prostate cancer ...
Kristina T. Carm, Bjarne Johannessen, Mari Bogaard, Anne Cathrine Bakken, Aase V. Maltau, Andreas M. Hoff, Ulrika Axcrona, Karol Axcrona, Ragnhild A. Lothe, Rolf I. Skotheim   +9 more
wiley   +1 more source

Whole exome sequencing as a screening tool in dogs: A pilot study. [PDF]

Comput Struct Biotechnol J
Boeykens F, Bogaerts E, Vossaert L, Peelman L, Van Nieuwerburgh F, Saunders JH, Broeckx BJG.   +6 more
europepmc   +1 more source

Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies. [PDF]

Hum Genomics
Zeng Z, Zhang L, Zhou Y, Zhang X, Yi H, Li H, Liu Y, Li J, Chen Q, Chen Y, Yu G, Yi J, Zhang Y, Zhang H, Dong Y.   +14 more
europepmc   +1 more source

Mast-cell leukemia exome sequencing reveals a mutation in the IgE mast-cell receptor β chain and KIT V654A

, 2011
Mona S. Spector, Ivan Iossifov, Athena Kritharis, Chao‐Jie He, Jonathan E. Kolitz, S. W. Lowe, Steven L. Allen   +6 more
openalex   +1 more source

Benchmarking of variant calling software for whole-exome sequencing using gold standard datasets. [PDF]

Sci Rep
Wong M, Liew B, Hum M, Lee NY, Lee ASG.
europepmc   +1 more source

ESR1 Variants and Subcontinental Genomic Ancestry: Insights from the 1000 Genomes Project and Native American Populations

Clinical Pharmacology &Therapeutics, EarlyView.
The ESR1 gene is relevant in breast cancer treatments in the pharmacogenetics context. However, Native, African, and mixed populations are known to be underrepresented in genomic studies. This is particularly important given that the difference in variants' frequencies among different populations can lead to population‐specific clinical implications ...
Mariana M. Scudeler, Caíque Manóchio, Bruno Miwa, Guilherme Belfort‐Almeida, Lucas Faria‐Costa, Cesar Sanchez, Carlos Padilla, Omar Caceres, Eduardo Tarazona‐Santos, Heinner Guio, Timothy D. O'Connor, Fernanda Rodrigues‐Soares   +11 more
wiley   +1 more source

Exome sequencing identifies novel genes associated with cerebellar volume and microstructure. [PDF]

Commun Biol
Liang Y, Ma D, Li M, Wang Z, Hao C, Sun Y, Hao X, Zuo C, Li S, Feng Y, Qi S, Wang Y, Sun S, Xu YM, Andreassen OA, Shi C.   +15 more
europepmc   +1 more source

Identification of somatic mutations in non-small cell lung carcinomas using whole-exome sequencing [PDF]

, 2012
Pengyuan Liu, Carl Morrison, Liang Wang, Donghai Xiong, Peter T. Vedell, Peng Cui, Xing Hua, Feng Ding, Yan Lü, Michael A. James, John D. Ebben, Haiming Xu, Alex A. Adjei, Karen Head, Jaime Wendt Andrae, Michael Tschannen, Howard J. Jacob, Jing Pan, Qi Zhang, Françoise Van den Bergh, Haijie Xiao, Ken C. Lo, Jigar Patel, Todd Richmond, Mary-Anne Watt, Thomas Albert, Rebecca R. Selzer, Marshall W. Anderson, Jiang Wang, Yian Wang, Sandra L. Starnes, Ping Yang, Ming You   +32 more
openalex   +1 more source

Navigating Pharmacogenomic Testing in Practice: Who to Test and When to Test

Clinical Pharmacology &Therapeutics, EarlyView.
There is increasing attention on the clinical utility and value of pharmacogenetic (PGx) testing to individualize medication management. Most clinical practice guidelines from medical professional societies do not recommend routine PGx testing, with a few key exceptions.
James M. Stevenson, D. Max Smith, Sony Tuteja, Jai N. Patel, on behalf of the Pharmacogenomics Global Research Network (PGRN) Publications Committee   +4 more
wiley   +1 more source