Results 51 to 60 of about 6,146,275 (314)

Benchmarking of single nucleotide somatic variant calling [PDF]

, 2017
Cancer, which affects hundreds of thousands of people worldwide every year and costs billions in treatment, is a disease caused by mutations that arise in somatic cell lines and contribute to abnormal and pathological behaviors and growth in cells. These
Derryberry, Dakota Zipporah
core   +1 more source

A DNA electrochemical biosensor based on triplex DNA-templated Ag/Pt nanoclusters for the detection of single-nucleotide variant.

Talanta: The International Journal of Pure and Applied Analytical Chemistry, 2020
A label-free electrochemical biosensor based on the triplex DNA-templated Ag/Pt bimetallic nanoclusters (triplex-Ag/PtNCs) and locked nucleic acid (LNA) modified X-shaped DNA probe was developed for the detection of single-nucleotide variant (SNV ...
Fang Wu, Qian Lin, Liang-Liang Wang, Yulian Zou, Mei Chen, Yao-Kun Xia, Jianming Lan, Jinghua Chen   +7 more
semanticscholar   +1 more source

Missense single nucleotide variants affecting CYP3A catalytic activity are present in Limousine cattle

Italian Journal of Animal Science, 2020
Cytochrome P450 (CYP) 3A is one of the most important subfamily of drug metabolising enzymes. Genetic factors such as breed and allelic variants might modify CYP3A expression and enzyme activity and lead to inter- and intra-individual variability in ...
Marianna Pauletto, Roberta Tolosi, Mauro Dacasto, Mery Giantin   +3 more
doaj   +1 more source

Sequencing Analysis of Plasma Epstein-Barr Virus DNA Reveals Nasopharyngeal Carcinoma-Associated Single Nucleotide Variant Profiles.

Clinical Chemistry, 2020
BACKGROUND Nasopharyngeal carcinoma (NPC) is strongly associated with Epstein-Barr virus (EBV) infection. Plasma EBV DNA is a validated screening tool for NPC.
W. K. Jacky Lam, Lu Ji, O. Y. Olivia Tse, Suk H. Cheng, P. Jiang, P. H. Patrick Lee, S. V. Lin, Edwin P. Hui, Brigette B. Y. Ma, Anthony T. C. Chan, K. A. Allen Chan, R. Chiu, Y. M. Dennis Lo   +12 more
semanticscholar   +1 more source

Single Nucleotide Polymorphisms in Papillary Thyroid Carcinoma: Clinical Significance and Detection by High-Resolution Melting

, 2022
Single nucleotide polymorphisms (SNPs) can have a variety of implications for the progression and development of papillary thyroid carcinomas (PTCs). Identification of SNPs, either as germline variants or mutations occurring in tumor tissue, can thus ...
Lam, AK, Smith, RA
core   +1 more source

A comparative study of single nucleotide variant detection performance using three massively parallel sequencing methods

PLoS ONE, 2020
Massively parallel sequencing (MPS) has revolutionised clinical genetics and research within human genetics by enabling the detection of variants in multiple genes in several samples at the same time.
Linea C Trudsø, J. D. Andersen, S. B. Jacobsen, S. L. Christiansen, Clàudia Congost-Teixidor, M. Kampmann, N. Morling   +6 more
semanticscholar   +1 more source

Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in Cypriot population. [PDF]

, 2010
Inability to correctly repair DNA damage is known to play a role in the development of breast cancer. Single nucleotide polymorphisms (SNPs) of DNA repair genes have been identified, which modify the DNA repair capacity, which in turn may affect the risk
Daniel, M, Hadjisavvas, A, Loizidou, MA, Newbold, RF, Neuhausen, SL, Marcou, Y, Michael, T, Bashiardes, E, Cariolou, MA, Kakouri, E   +9 more
core   +6 more sources

Recurrent miscalling of missense variation from short-read genome sequence data

BMC Genomics, 2019
Background Short-read resequencing of genomes produces abundant information of the genetic variation of individuals. Due to their numerous nature, these variants are rarely exhaustively validated.
Matthew A. Field, Gaetan Burgio, Aaron Chuah, Jalila Al Shekaili, Batool Hassan, Nashat Al Sukaiti, Simon J. Foote, Matthew C. Cook, T. Daniel Andrews   +8 more
doaj   +1 more source

MLH1 single-nucleotide variant in circulating tumor DNA predicts overall survival of patients with hepatocellular carcinoma

Scientific Reports, 2020
Liquid biopsy can provide a strong basis for precision medicine. We aimed to identify novel single-nucleotide variants (SNVs) in circulating tumor DNA (ctDNA) in patients with hepatocellular carcinoma (HCC).
Soon Sun Kim, Woo Eun Jung, Ji-Hye Choi, H. Woo, H. Cho, H. Ahn, C. Suh, G. Baek, S. Cho, J. Cheong   +9 more
semanticscholar   +1 more source

Common variants of the TCF7L2 gene are associated with increased risk of type 2 diabetes mellitus in a UK-resident South Asian population [PDF]

, 2008
Background Recent studies have implicated variants of the transcription factor 7-like 2 (TCF7L2) gene in genetic susceptibility to type 2 diabetes mellitus in several different populations. The aim of this study was to determine whether variants of this
Barnett Anthony H, Barnett, Anthony, Britten, Abigail C., Bellary, S, Barnett, Anthony H., Anthony H Barnett, Kumar Sudhesh, Britten, Abigail, Sudhesh Kumar, Rees, Simon D., Rees, Simon, Kelly, M. Ann, Kelly, Marilyn, Britten Abigail C, Kelly M Ann, Bellary, Srikanth, Rees Simon D, Srikanth Bellary, Abigail C Britten, J Paul O'Hare, Bellary Srikanth, O'Hare, JP, Kumar, Sudhesh, Simon D Rees, Barnett, A. H., O'Hare J Paul, Kumar, S, O'Hare, J. Paul, M Ann Kelly   +28 more
core   +2 more sources