Results 41 to 50 of about 709,841 (333)

Single-Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in a High-Risk and Low-Risk Cohort

Obstetrics and Gynecology, 2014
OBJECTIVE: To estimate performance of a single-nucleotide polymorphism–based noninvasive prenatal screen for fetal aneuploidy in high-risk and low-risk populations on single venopuncture.
E. Pergament, H. Cuckle, B. Zimmermann, M. Banjevic, S. Sigurjonsson, A. Ryan, M. Hall, M. Dodd, P. Lacroute, M. Stosic, Nikhil Chopra, N. Hunkapiller, D. Prosen, S. McAdoo, Z. Demko, A. Siddiqui, M. Hill, M. Rabinowitz   +17 more
semanticscholar   +1 more source

Examination of runs of homozygosity in relation to height in an endogamous Namibian population

American Journal of Biological Anthropology, Volume 180, Issue 1, Page 207-215, January 2023., 2023
Abstract Objectives Height is a complex, highly heritable polygenic trait subject to both genetic composition and environmental influences. Recent studies suggest that a large proportion of height heritability is determined by the cumulative effect of many low allele frequency variants across the genome. Previous research has also identified an inverse
Natalie Swinford, Brenna Gallagher, Jacob Sheehama, Meng Lin, Sean Prall, Brooke Scelza, Brenna M. Henn   +6 more
wiley   +1 more source

Association between Single Nucleotide Polymorphisms and Endometriosis in a Brazilian Population [PDF]

Revista Brasileira de Ginecologia e Obstetrícia, 2020
Objective To investigate the association between genetic polymorphisms in candidate genes or candidate regions and the development of endometriosis in Brazilian women.
Paula Coelho Silva Viana, Ana Carolina Delgado Malvaccini Mendes, Lucas Farah Delgado, Gustavo Tostes, Lidiane Gonçalves, Homero Gonçalves Júnior, Nádia Rezende Barbosa Raposo, Geraldo Sérgio Farinazzo Vitral, Pamela Souza Almeida Silva Gerheim   +8 more
doaj   +1 more source

Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

Circulation Research, 2014
Rationale: Congenital heart disease (CHD) is among the most common birth defects. Most cases are of unknown pathogenesis. Objective: To determine the contribution of de novo copy number variants (CNVs) in the pathogenesis of sporadic CHD.
J. Glessner, A. Bick, K. Ito, Jason Homsy, Laura Rodríguez-Murillo, M. Fromer, Erica Mazaika, B. Vardarajan, Michael J. Italia, Jeremy Leipzig, S. DePalma, R. Golhar, Stephan J Sanders, B. Yamrom, M. Ronemus, I. Iossifov, A. Willsey, M. State, J. Kaltman, P. White, Yufeng Shen, D. Warburton, M. Brueckner, C. Seidman, E. Goldmuntz, B. Gelb, R. Lifton, J. Seidman, H. Hakonarson, W. Chung   +29 more
semanticscholar   +1 more source

Single nucleotide polymorphisms and periodontitis

Dentistry and Medical Research, 2014
The susceptibility to various diseases is studied with association to genetic polymorphisms. Among these polymorphisms, single-nucleotide polymorphisms (SNPs) are very common throughout the genome. The recent advances in genetic assay techniques and increase in SNP databases are paving a way for investigation of susceptibility genes for periodontitis ...
Khaled Awidat, Syed Wali Peeran, Marei Hamad Al Mugrabi, Ramalingam Karthikeyan, Omar Basheer, Manohar Murugan   +5 more
openaire   +3 more sources

Functional single nucleotide polymorphism-based association studies

Human Genomics, 2006
Association studies hold great promise for the elucidation of the genetic basis of diseases. Studies based on functional single nucleotide polymorphisms (SNPs) or on linkage disequilibrium (LD) represent two main types of designs.
Carlton Victoria EH, Ireland James S, Useche Francisco, Faham Malek   +3 more
doaj   +1 more source

Crosstalk between gut microbiota and tumor: tumors could cause gut dysbiosis and metabolic imbalance

Molecular Oncology, EarlyView.
In this research, we analyzed the relationship between gut microbiota and tumor. We discovered that both subcutaneous and metastatic tumors would alter the composition and metabolic function of gut microbiota. Meanwhile, fecal microbiota transplantation also indicated the anti‐tumor role of the gut microbiota, revealing the crosstalk between tumor and ...
Siyuan Zhang, Haimei Wen, Ying Chen, Jingya Ning, Di Hu, Yujiao Dong, Chenyu Yao, Bo Yuan, Shuanying Yang   +8 more
wiley   +1 more source

Correlation between MDM2 T309G single nucleotide polymorphism and esophageal cancer susceptibility: An updated meta‐analysis

Thoracic Cancer, 2020
Background The aim of this study was to investigate the correlation between MDM2 T309G single nucleotide polymorphism (SNP) and esophageal cancer susceptibility through pooling the open published data.
Lele Yin, Guo Shen, Bin Zhu
doaj   +1 more source

Simultaneous Selection of Multiple Important Single Nucleotide Polymorphisms in Familial Genome Wide Association Studies Data [PDF]

, 2018
We propose a resampling-based fast variable selection technique for detecting relevant single nucleotide polymorphisms (SNP) in a multi-marker mixed effect model. Due to computational complexity, current practice primarily involves testing the effect of one SNP at a time, commonly termed as `single SNP association analysis'.
arxiv   +1 more source

Estimation of pleiotropy between complex diseases using single-nucleotide polymorphism-derived genomic relationships and restricted maximum likelihood

Bioinform., 2012
SUMMARY Genetic correlations are the genome-wide aggregate effects of causal variants affecting multiple traits. Traditionally, genetic correlations between complex traits are estimated from pedigree studies, but such estimates can be confounded by ...
S. Lee, Jian Yang, M. Goddard, P. Visscher, N. Wray   +4 more
semanticscholar   +1 more source