Pappas, Chris M. Zouache, Moussa A. Matthews, Stacie Faust, Caitlin D. Hageman, Jill L. Williams, Brandi L. Richards, Burt T. Hageman, Gregory S.
Published in
Human Genomics
Background Single-variant associations with age-related macular degeneration (AMD), one of the most prevalent causes of irreversible vision loss worldwide, have been studied extensively. However, because of a lack of refinement of these associations, there remains considerable ambiguity regarding what constitutes genetic risk and/or protection for ...
Colona, Vito Luigi Vasiliou, Vasilis Watt, Jessica Novelli, Giuseppe Reichardt, Juergen K. V.
Published in
Human Genomics
Kim, Sungjae Shin, Jong-Yeon Kwon, Nak-Jung Kim, Chang-Uk Kim, Changhoon Lee, Chong Sik Seo, Jeong-Sun
Published in
Human Genomics
Background Low-pass sequencing (LPS) has been extensively investigated for applicability to various genetic studies due to its advantages over genotype array data including cost-effectiveness. Predicting the risk of complex diseases such as Parkinson’s disease (PD) using polygenic risk score (PRS) based on the genetic variations has shown decent pr...
Colona, Vito Luigi Vasilou, Vasilis Watt, Jessica Novelli, Giuseppe Reichardt, Juergen K. V.
Published in
Human Genomics
Charati, Hadi Peng, Min-Sheng Chen, Wei Yang, Xing-Yan Ori, Roghayeh Jabbari Aghajanpour-Mir, Mohsen Esmailizadeh, Ali Zhang, Ya-Ping
Published in
Human Genomics
Li, Lian-Di Naveed, Muhammad Du, Zi-Wei Ding, Huachen Gu, Kai Wei, Lu-Lu Zhou, Ya-Ping Meng, Fan Wang, Chun Han, Feng
...
Published in
Human Genomics
Whether microRNAs (miRNAs) from plasma exosomes might be dysregulated in patients with depression, especially treatment-resistant depression (TRD), remains unclear, based on study of which novel biomarkers and therapeutic targets could be discovered. To this end, a small sample study was performed by isolation of plasma exosomes from patients with ...
Cheung, Nicholas Yan Chai Fung, Jasmine Lee Fong Ng, Yvette Nga Chung Wong, Wilfred Hing Sang Chung, Claudia Ching Yan Mak, Christopher Chun Yu Chung, Brian Hon Yin
Published in
Human Genomics
Background The global development and advancement of genomic medicine in the recent decade has accelerated the implementation of personalized medicine (PM) and pharmacogenomics (PGx) into clinical practice, while catalyzing the emergence of genetic testing (GT) with relevant ethical, legal, and social implications (ELSI). Results The perception of ...
Zhang, Enchong Chen, Yijing Bao, Shurui Hou, Xueying Hu, Jing Mu, Oscar Yong Nan Song, Yongsheng Shan, Liping
Published in
Human Genomics
BackgroundSkin cutaneous melanoma (SKCM) is one of the most highly prevalent and complicated malignancies. Glycolysis and cholesterogenesis pathways both play important roles in cancer metabolic adaptations. The main aims of this study are to subtype SKCM based on glycolytic and cholesterogenic genes and to build a clinical outcome predictive algor...
Abouelhoda, Mohamed Mohty, Dania Alayary, Islam Meyer, Brian F. Arold, Stefan T. Fadel, Bahaa M. Monies, Dorota
Published in
Human Genomics
BackgroundFamilial transthyretin (TTR) amyloidosis (ATTR) is an autosomal dominant disease with significant phenotypic heterogeneity. Its prevalence in Saudi Arabia has not previously been investigated. An existing exome variant database of Saudi individuals, sequenced to globally investigate rare diseases in the population, was mined for TTR varia...
Pandi, Maria-Theodora Koromina, Maria Tsafaridis, Iordanis Patsilinakos, Sotirios Christoforou, Evangelos van der Spek, Peter J. Patrinos, George P.
Published in
Human Genomics
BackgroundThe field of pharmacogenomics focuses on the way a person’s genome affects his or her response to a certain dose of a specified medication. The main aim is to utilize this information to guide and personalize the treatment in a way that maximizes the clinical benefits and minimizes the risks for the patients, thus fulfilling the promises ...
