Results 51 to 60 of about 125,953 (296)

Analysis of Single Nucleotide Variants in CRISPR-Cas9 Edited Zebrafish Exomes Shows No Evidence of Off-Target Inflation

Frontiers in Genetics, 2019
Therapeutic applications of CRISPR-Cas9 gene editing have spurred innovation in Cas9 enzyme engineering and single guide RNA (sgRNA) design algorithms to minimize potential off-target events. While recent work in rodents outlines favorable conditions for
Marie R. Mooney, Erica E. Davis, Erica E. Davis, Erica E. Davis, Nicholas Katsanis, Nicholas Katsanis, Nicholas Katsanis   +6 more
doaj   +1 more source

Multi‐omic characterization of consensus molecular subtype 1 (CMS1) colorectal cancer with dampened immune response improves precision medicine

Molecular Oncology, EarlyView.
This study highlights the importance of multi‐omic analyses in characterizing colorectal cancers. Indeed, our analysis revealed a rare CMS1 exhibiting dampened immune activation, including reduced PD‐1 expression, moderate CD8+ T‐cell infiltration, and suppressed JAK/STAT pathway.
Livia Concetti, Manuel Scimeca, Julia Bischof, Jonathan Woodsmith, Massimiliano Agostini, Cristina Fiorani, Yufang Shi, Eleonora Candi, Gerry Melino, Alessandro Mauriello, Giuseppe S. Sica   +10 more
wiley   +1 more source

Novel bioinformatic developments for exome sequencing [PDF]

Human Genetics, 2016
With the widespread adoption of next generation sequencing technologies by the genetics community and the rapid decrease in costs per base, exome sequencing has become a standard within the repertoire of genetic experiments for both research and diagnostics. Although bioinformatics now offers standard solutions for the analysis of exome sequencing data,
Stefan H. Lelieveld, Joris A. Veltman, Christian Gilissen   +2 more
openaire   +6 more sources

MET and NF2 alterations confer primary and early resistance to first‐line alectinib treatment in ALK‐positive non‐small‐cell lung cancer

Molecular Oncology, EarlyView.
Alectinib resistance in ALK+ NSCLC depends on treatment sequence and EML4‐ALK variants. Variant 1 exhibited off‐target resistance after first‐line treatment, while variant 3 and later lines favored on‐target mutations. Early resistance involved off‐target alterations, like MET and NF2, while on‐target mutations emerged with prolonged therapy.
Jie Hu, Ning Ding, Xiaobo Xu, Yedan Chen, Yong Zhang, Jingwen Liu, Jiebai Zhou, Hairong Bao, Donghui Zhang, Yijun Song, Yang Shao, Yuanlin Song   +11 more
wiley   +1 more source

Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project[S]

Journal of Lipid Research, 2014
HDL-associated paraoxonase-1 (PON1) is an enzyme whose activity is associated with cerebrovascular disease. Common PON1 genetic variants have not been consistently associated with cerebrovascular disease.
Daniel Seung Kim, David R. Crosslin, Paul L. Auer, Stephanie M. Suzuki, Judit Marsillach, Amber A. Burt, Adam S. Gordon, James F. Meschia, Mike A. Nalls, Bradford B. Worrall, W.T. Longstreth, Jr., Rebecca F. Gottesman, Clement E. Furlong, Ulrike Peters, Stephen S. Rich, Deborah A. Nickerson, Gail P. Jarvik   +16 more
doaj  

p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder [PDF]

Journal of Movement Disorders, 2018
Mutations in presenilin 1 (PSEN1) are the most common cause of autosomal dominant Alzheimer’s disease. Here, we report a Canadian-Vietnamese family carrying a PSEN1 p.Met233Val mutation with an exceptionally early and severe presentation that includes a ...
Silke Appel-Cresswell, Ilaria Guella, Anna Lehman, Dean Foti, Matthew J. Farrer   +4 more
doaj   +1 more source

Detecting homologous recombination deficiency for breast cancer through integrative analysis of genomic data

Molecular Oncology, EarlyView.
This study develops a semi‐supervised classifier integrating multi‐genomic data (1404 training/5893 validation samples) to improve homologous recombination deficiency (HRD) detection in breast cancer. Our method demonstrates prognostic value and predicts chemotherapy/PARP inhibitor sensitivity in HRD+ tumours.
Rong Zhu, Katherine Eason, Suet‐Feung Chin, Paul A. W. Edwards, Raquel Manzano Garcia, Richard Moulange, Jia Wern Pan, Soo Hwang Teo, Sach Mukherjee, Maurizio Callari, Carlos Caldas, Stephen‐John Sammut, Oscar M. Rueda   +12 more
wiley   +1 more source

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

Applied & Translational Genomics, 2015
Massively parallel sequencing is rapidly becoming a widely used method in genetic diagnostics. However, there is still no clear consensus as to which approach can most efficiently identify the pathogenic mutations carried by a given patient, while avoiding false negative and false positive results.
Gorokhova, Svetlana, Cerino, Mathieu, Mathieu, Yves, Courrier, Sebastien, Desvignes, Jean-Pierre, Salgado, David, Béroud, Christophe, Krahn, Martin, Bartoli, Marc   +8 more
openaire   +3 more sources

Exome sequencing in Parkinson's disease [PDF]

Clinical Genetics, 2011
Bras JM, Singleton AB. Exome sequencing in Parkinson's disease.Exome sequencing is rapidly becoming a fundamental tool for genetics and functional genomics laboratories. This methodology has enabled the discovery of novel pathogenic mutations causing mendelian diseases that had, until now, remained elusive.
Andrew B. Singleton, Jose Bras
openaire   +3 more sources

Genomics‐led approach to drug testing in models of undifferentiated pleomorphic sarcoma

Molecular Oncology, EarlyView.
GA text Genomic data from undifferentiated pleomorphic sarcoma patients and preclinical models were used to inform a targeted drug screen. Selected compounds were tested in 2D and 3D cultures of UPS cell lines. A combination of trametinib and infigratinib was synergistic in the majority of UPS cell lines tested, which was further confirmed in an ex ...
Piotr J. Manasterski, Molly R. Danks, John P. Thomson, Morwenna Muir, Martin Lee, John C. Dawson, Ana T. Amaral, Juan Diaz‐Martin, David S. Moura, Javier Martin‐Broto, Ali Alsaadi, Donald M. Salter, Ailsa J. Oswald, Graeme Grimes, Larry Hayward, Ted R. Hupp, Karen Sisley, Paul H. Huang, Neil O. Carragher, Valerie G. Brunton   +19 more
wiley   +1 more source