Genetic overlap for ten cardiovascular diseases: A comprehensive gene-centric pleiotropic association analysis and Mendelian randomization study by Zeye Liu, Jing Xu, Jiangshan Tan, Xiaofei Li, Fengwen Zhang, Wenbin Ouyang, Shouzheng Wang, Yuan Huang, Shoujun Li, Xiangbin Pan

Subjects: Get full text

AI-enabled evaluation of genome-wide association relevance and polygenic risk score prediction in Alzheimer's disease by Daniel E. Platt, Aldo Guzmán-Sáenz, Aritra Bose, Subrata Saha, Filippo Utro, Laxmi Parida

Subjects: “…Human Genetics…”
Get full text

Structural brain abnormalities in a single gene disorder associated with epilepsy, language impairment and intellectual disability by Joe Bathelt, Duncan Astle, Jessica Barnes, F. Lucy Raymond, Kate Baker

Subjects: Get full text

Role of HLA-G and other immune mechanisms in pregnancy by Durmanova Vladimira, Homolova Monika, Drobny Juraj, Shawkatova Ivana, Buc Milan

Subjects: Get full text

A tribute to José María ("Chema") Cantú by Victor B. Penchaszadeh, Augusto Rojas-Martinez, Adrián Llerena

Subjects: Get full text

Identification of p.Met215Ile mutation of the MC4R gene in a Moroccan woman with obesity by Meriem El Fessikh, Hakim Belghiti, Zouhair Elkarhat, Hassania Guerinech, Nadia Dakka, Jamila El Baghdadi

Subjects: “…human genetics…”
Get full text

Bayesian multivariate genetic analysis improves translational insights by Sarah M. Urbut, Satoshi Koyama, Whitney Hornsby, Rohan Bhukar, Sumeet Kheterpal, Buu Truong, Margaret S. Selvaraj, Benjamin Neale, Christopher J. O’Donnell, Gina M. Peloso, Pradeep Natarajan

Subjects: “…Human genetics…”
Get full text

Estimating the number of diseases – the concept of rare, ultra-rare, and hyper-rare by C. I. Edvard Smith, Peter Bergman, Daniel W. Hagey

Subjects: Get full text

Involvement of promoter/enhancers in a feedback loop to regulate human gene expression by Jay C. Brown

Subjects: Get full text

Profiling the inflammatory bowel diseases using genetics, serum biomarkers, and smoking information by Ruize Liu, Dalin Li, Talin Haritunians, Yunfeng Ruan, Mark J. Daly, Hailiang Huang, Dermot P.B. McGovern

Subjects: Get full text

Presacral malakoplakia presenting as foot drop: a case report by Tom A. Yates, Katie Devlin, Abed Arnaout, William Hurt, Neil Stone, Kate V. Everett, Alan Pittman, Hardik Patel, Susan Heenan, Paul Hart, Thomas S. Harrison

Subjects: Get full text

William Jackson Schull and mutation studies on human cohorts by Tomoko Y. Steen

Subjects: Get full text

A human somatic cell culture system for modelling gene silencing by transcriptional interference by Theresa Kühnel, Helena Sophie Barbara Heinz, Nadja Utz, Tanja Božić, Bernhard Horsthemke, Laura Steenpass

Subjects: Get full text

Validation of phylogenetic informative Y-InDels in Y-chromosomal haplogroup O-M175 by Zhihan Zhou, Zhimin Li, Yining Yao, Jinglei Qian, Qiqi Ji, Chengchen Shao, Jianhui Xie

Subjects: “…human genetics…”
Get full text

Developing an Online Portal for Determining the Genomic Signature of Archaic DNA that are Associated to Modern Human Genetic Diseases: A Meta-Analysis Study by Niyazi Senturk, Mahmut Cerkez Ergoren

Get full text

HOPS: a quantitative score reveals pervasive horizontal pleiotropy in human genetic variation is driven by extreme polygenicity of human traits and diseases by Daniel M. Jordan, Marie Verbanck, Ron Do

Get full text

Human genetic diversity regulating the TLR10/TLR1/TLR6 locus confers increased cytokines in response to Chlamydia trachomatis by Alyson B. Barnes, Rachel M. Keener, Benjamin H. Schott, Liuyang Wang, Raphael H. Valdivia, Dennis C. Ko

“…Summary: Human genetic diversity can have profound effects on health outcomes upon exposure to infectious agents. …”
Get full text

ASPsiRNA: A Resource of ASP-siRNAs Having Therapeutic Potential for Human Genetic Disorders and Algorithm for Prediction of Their Inhibitory Efficacy by Isha Monga, Abid Qureshi, Nishant Thakur, Amit Kumar Gupta, Manoj Kumar

“…Thus, ASPsiRNA encompasses the first database, prediction algorithm, and off-target analysis tool that is expected to accelerate research in the field of RNAi-based therapeutics for human genetic diseases.…”
Get full text

New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes by Souhir Mestiri, Sami Boussetta, Andrew J. Pakstis, Sarra El Kamel, Amel Ben Ammar El Gaaied, Kenneth K. Kidd, Lotfi Cherni

Get full text

SR-B1, a Key Receptor Involved in the Progression of Cardiovascular Disease: A Perspective from Mice and Human Genetic Studies by Irene Gracia-Rubio, César Martín, Fernando Civeira, Ana Cenarro

Subjects: Get full text