Results 101 to 110 of about 219,632 (346)

Accurate estimation of homologue-specific DNA concentration-ratios in cancer samples allows long-range haplotyping [PDF]

, 2011
Interpretation of allelic copy measurements at polymorphic markers in cancer samples presents distinctive challenges and opportunities. Due to frequent gross chromosomal alterations occurring in cancer (aneuploidy), many genomic regions are present at ...
Gad Getz, Matthew Meyerson, Scott L. Carter   +2 more
core   +1 more source

CNV discovery using SNP genotyping arrays

Cytogenetic and Genome Research, 2008
Genome-wide single nucleotide polymorphism (SNP) genotyping platforms have made an important contribution to population genetics and genetic epidemiology. Recently there has been a realisation that these SNP platforms can also be used for typing copy number variants (CNVs).
Yau, C, Holmes, C
openaire   +3 more sources

Genetic Control of Tissue Remodeling by a Non‐Coding SNP in ITGA8 Explains Carotenoid‐Based Color Polymorphism in Marine Mollusks

Advanced Science, EarlyView.
In this study, the orange‐muscle giant abalone (Haliotis gigantea) is used as a model to identify a non‐coding SNP that disrupts the interaction between ITGA8 pre‐mRNA and the splicing factor ILF2, leading to altered ITGA8 splicing. These splicing changes promote carotenoid accumulation in abalone muscle through the regulation of tissue remodeling ...
Xiaohui Wei, Wenzhu Peng, Zekun Huang, Bingye Yang, Yiyu Wu, Minzhen Han, Yi Wang, Bingling Peng, Guosheng Hu, Jiawei Hong, Guijia Liu, Linwei Nie, Yang Gan, Miaoqin Huang, Xuan Luo, Weiwei You, Wen Liu, Caihuan Ke   +17 more
wiley   +1 more source

A rapid, microplate SNP genotype assay for the leptinob alleles⃞

Journal of Lipid Research, 2008
A nonsense mutation in the mouse leptin gene causes genetic obesity. As a result of extensive research in the field of obesity, the use of leptinob mice is widespread. This mutation renders mice sterile, creating the need to breed heterozygous mice.
Angie T. Oler, Alan D. Attie
doaj   +1 more source

Leveraging local identity-by-descent increases the power of case/control GWAS with related individuals

, 2014
Large case/control Genome-Wide Association Studies (GWAS) often include groups of related individuals with known relationships. When testing for associations at a given locus, current methods incorporate only the familial relationships between ...
Li, Peng, Sampson, Joshua N., Shi, Jianxin, Wheeler, Bill   +3 more
core   +1 more source

A Guide for Spatial Omics Technologies: Innovation, Evaluation, and Application

Advanced Science, EarlyView.
This review presents a strategy‐centric framework for spatial omics technologies, organizing methods by how spatial information is experimentally encoded. It compares key performance trade‐offs across sequencing‐ and imaging‐based approaches, examines computational and practical limitations, and highlights biomedical applications. The analysis provides
Xiaofeng Wu, Weize Xu, Da Lin, Leqiang Sun, Jinxia Dai, Gang Cao   +5 more
wiley   +1 more source

High-Throughput SNP Genotyping: Combining Tag SNPs and Molecular Beacons [PDF]

, 2009
In the last decade, molecular beacons have emerged to become a widely used tool in the multiplex typing of single nucleotide polymorphisms (SNPs). Improvements in detection technologies in instrumentation and chemistries to label these probes have made it possible to use up to six spectrally distinguishable probes per reaction well. With the remarkable
Barreiro, Luis B., Henriques, Ricardo, Mhlanga, Musa M.   +2 more
openaire   +2 more sources

ZSL Orchestrates Synaptonemal Complex Assembly as a Central Region Scaffold to Ensure Synapsis Fidelity and Crossover Control in Polyploid Meiosis

Advanced Science, EarlyView.
A central molecular adaptor, ZSL, is identified that links transverse filaments ZYP1 to central element SCEP1/2 to drive synaptonemal complex assembly in Brassica napus. Loss of ZSL abolishes synaptonemal complex formation, disrupts meiotic chromosome segregation, and markedly increases crossovers, providing mechanistic insight into meiotic fidelity ...
Miaowei Geng, Shaochen Jia, Fei Cao, Cuiping Liu, Heshuang Zhang, Gang Xu, Jixin Zhuang, Yashi Zhang, Can Liu, Yuhang Zhao, Zilin Guo, Xinjie Yuan, Jiaqing Yang, Lei Chu, Bowei Cai, Hu Zhao, Chao Yang   +16 more
wiley   +1 more source

A Scalable Framework for Comprehensive Typing of Polymorphic Immune Genes from Long‐Read Data

Advanced Science, EarlyView.
SpecImmune introduces a unified computational framework optimized for long‐read sequencing to resolve over 400 highly polymorphic immune genes. This scalable approach achieves high‐resolution typing, enabling the discovery of cross‐family co‐evolutionary networks and population‐specific diversity.
Shuai Wang, Xuedong Wang, Mengyao Wang, Qian Zhou, Lusheng Wang, Shuai Cheng Li   +5 more
wiley   +1 more source

Nucleic acid amplification-based HER2I655V molecular detection for breast cancer

Journal of Oncological Sciences, 2019
Single Nucleotide Polymorphism at codon 655 of HER2 gene has been extensively evaluated for its role as a susceptible biomarker for breast cancer development and the contradictive result of its role has been a debate among researchers as evidenced from ...
Bugi Ratno Budiarto, Pimpin Utama Pohan, Desriani   +2 more
doaj   +1 more source