herenciageneticayenfermedad: Human Genomics

viernes, 25 de enero de 2019

Human Genomics | Home page

Official journal of

Human Genome Organization

Featured article: Population and breast cancer patients’ analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population

Interpretation of variants of unknown significance in genetic tests is complicated in ethnically diverse populations, given the lack of information regarding the common spectrum of genetic variation in clinically relevant genes. In this study, Fernández-Lopez et al. analyzed Mexican population data from a sample of 3985 outbred individuals and an additional 66 hereditary breast cancer patients to better define the spectrum of common genomic variation of the BRCA1 and BRCA2 genes. Their analyses identified the most common genetic variants in these clinically relevant genes as well as the presence and frequency of specific pathogenic mutations present in the Mexican population.

Articles

Content Type:Primary Research
| 24 January 2019
The association of functional polymorphisms in genes expressed in endothelial cells and smooth muscle cells with the myocardial infarction
Authors:Yilan Li, Shipeng Wang, Dandan Zhang, Xueming Xu, Bo Yu and Yao Zhang
Content Type:Primary Research
| 10 January 2019
Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study
Authors:Dandan Yi, Lei Xu, Jiaqi Luo, Xiaobin You, Tao Huang, Yi Zi, Xiaoting Li, Ru Wang, Zaixuan Zhong, Xiaoqiao Tang, Ang Li, Yujian Shi, Jianmei Rao, Yifen Zhang and Jianfeng Sang
Content Type:Primary Research
| 10 January 2019
Population and breast cancer patients’ analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population
Authors:J. C. Fernández-Lopez, S. Romero-Córdoba, R. Rebollar-Vega, L. A. Alfaro-Ruiz, S. Jiménez-Morales, F. Beltrán-Anaya, R. Arellano-Llamas, A. Cedro-Tanda, M. Rios-Romero, M. Ramirez-Florencio, V. Bautista-Piña, C. Dominguez-Reyes, F. Villegas-Carlos, A. Tenorio-Torres and A. Hidalgo-Miranda
Content Type:Review
| 8 January 2019
The X chromosome and sex-specific effects in infectious disease susceptibility
Authors:Haiko Schurz, Muneeb Salie, Gerard Tromp, Eileen G. Hoal, Craig J. Kinnear and Marlo Möller
Content Type:Primary Research
| 3 January 2019
Preimplantation genetic diagnosis and screening (PGD/S) using a semiconductor sequencing platform
Authors:Li-Ya Wang, Xing-Qiang Rao, Yu-Qin Luo, Bei Liu, Chun-Fang Peng, Dan Chen, Kai Yan, Ye-Qing Qian, Yan-Mei Yang, Ying-Zhi Huang, Min Chen, Yi-Xi Sun, Hong-Ge Li, Ying-Hui Ye, Fan Jin, Hai-Liang Liu…