Results 41 to 50 of about 815,442 (374)

Fast and SNP-tolerant detection of complex variants and splicing in short reads

Bioinform., 2010
Motivation: Next-generation sequencing captures sequence differences in reads relative to a reference genome or transcriptome, including splicing events and complex variants involving multiple mismatches and long indels.
Thomas D. Wu, Serban Nacu
semanticscholar   +1 more source

Investigations into the molecular effects of single nucleotide polymorphism [PDF]

, 2000
Objectives: DNA sequences are very rich in short repeats and their pattern can be altered by point mutations. We wanted to investigate the effect of single nucleotide polymorphism (SNP) on the pattern of short DNA repeats and its biological consequences.
Lohrer, Horst D., Tangen, Uwe
core   +1 more source

Robust Demographic Inference from Genomic and SNP Data

PLoS Genetics, 2013
We introduce a flexible and robust simulation-based framework to infer demographic parameters from the site frequency spectrum (SFS) computed on large genomic datasets.
L. Excoffier, I. Dupanloup, E. Huerta-Sánchez, V. Sousa, M. Foll   +4 more
semanticscholar   +1 more source

A new SNP genotyping technology Target SNP-seq and its application in genetic analysis of cucumber varieties

Scientific Reports, 2020
To facilitate the utility of SNP-based genotyping, we developed a new method called target SNP-seq which combines the advantages of multiplex PCR amplification and high throughput sequencing.
Jian Zhang, Jingjing Yang, Like Zhang, Jiang Luo, Hong Zhao, Jianan Zhang, Changlong Wen   +6 more
semanticscholar   +1 more source

Posición sobre los componentes del sistema de evaluación, a propósito del área de lenguaje

Enunciación, 1996
                                                                                                                                      
Patricia Duarte A., Carlos Ordoñez P., Miralba Correa R., Gloria Rincón B., Neyla Pardo A., Fabio Jurado V., Guillermo Bustamante Z., Daniel Hernández R.   +7 more
doaj   +1 more source

The Importance of Natural Antioxidants in Female Reproduction

Antioxidants, 2023
Oxidative stress (OS) has an important role in female reproduction, whether it is ovulation, endometrium decidualization, menstruation, oocyte fertilization, or development andimplantation of an embryo in the uterus.
Janka Vašková, Zuzana Klepcová, Ivana Špaková, Peter Urdzík, Jana Štofilová, Izabela Bertková, Marek Kľoc, Miroslava Rabajdová   +7 more
doaj   +1 more source

Multiple breast cancer risk variants are associated with differential transcript isoform expression in tumors. [PDF]

, 2015
Genome-wide association studies have identified over 70 single-nucleotide polymorphisms (SNPs) associated with breast cancer. A subset of these SNPs are associated with quantitative expression of nearby genes, but the functional effects of the majority ...
Brenner, Steven E, Camarda, Roman, Caswell, Jennifer L, Goga, Andrei, Hu, Donglei, Huntsman, Scott, Zaitlen, Noah, Zhou, Alicia Y, Ziv, Elad   +8 more
core   +2 more sources

SKM-SNP: SNP markers detection method

Journal of Biomedical Informatics, 2010
SKM-SNP, SNP markers detection program, is proposed to identify a set of relevant SNPs for the association between a disease and multiple marker genotypes. We employ a subspace categorical clustering algorithm to compute a weight for each SNP in the group of patient samples and the group of normal samples, and use the weights to identify the subsets of
Liu, Y, Li, M, Cheung, YM, Ng, MK, Sham, PC   +4 more
openaire   +4 more sources

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.

Genome Research, 2007
Comprehensive identification and cataloging of copy number variations (CNVs) is required to provide a complete view of human genetic variation. The resolution of CNV detection in previous experimental designs has been limited to tens or hundreds of ...
Kai Wang, Mingyao Li, D. Hadley, Rui Liu, J. Glessner, S. Grant, H. Hakonarson, M. Bucan   +7 more
semanticscholar   +1 more source

Optimisation of urine sample preparation for shotgun proteomics

Open Chemistry, 2020
Urine reflects the renal function and urinary and kidney systems, but it may also reflect the presence of cancer in other parts of the body. Urine also has potential for providing prognostic information during therapeutic treatments thanks to non ...
Tkáčiková Soňa, Talian Ivan, Sabo Ján   +2 more
doaj   +1 more source