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Whole Exome Sequencing Reveals Pathogenic Variants in MYO3A, MYO15A and COL9A3, and Differential Frequencies in Ancestral Alleles in Hearing Impairment Genes Among Individuals from Cameroon

Ambroise Wonkam, Noluthando Manyisa, Christian D Bope, Collet Dandara, Emile R Chimusa
2020 Human Molecular Genetics  
The study identified significant genetic differentiation in novel population specific gene variants at FOXD4L2, DHRS2L6, RPL3L and VTN, between HI patients and controls.  ...  These gene variants are found in functional/co-expressed interactive networks with other known HI associated genes; and in the same pathways with VTN being a hub protein, i.e. focal adhesion pathway and  ...  Finally, we are grateful to patients and families who participated in this study. This study was supported by the South African Medical Research Council (SAMRC"s) Self-  ... 
doi:10.1093/hmg/ddaa225 pmid:33078831 pmcid:PMC7861016 fatcat:ep6a5fvwvbgkdnvyt5av3lrlgq

Microbial Genome-Wide Association Studies: Lessons from Human GWAS [article]

Robert Power, Julian Parkhill, Tulio de Oliveira
2016 bioRxiv   pre-print
The reduced costs of sequencing have led to the availability of whole genome sequences for a large number of microorganisms, enabling the application of microbial genome wide association studies (GWAS)  ...  By building on the success of GWAS, microbial GWAS have the potential to rapidly provide important insights into pressing global health problems, such as antibiotic resistance and disease transmission.  ...  His main research interest is the application of statistical genetic tools to both micro-organisms and humans to better understand disease aetiology.  ... 
doi:10.1101/093211 fatcat:ohsd5fsdmjb67ijyucb5fax2fi

Combinatorial Analytics: An Essential Tool for the Delivery of Precision Medicine and Precision Agriculture

Steve Gardner
2021 Artificial Intelligence in the Life Sciences  
and selective breeding applications in crops and livestock.  ...  In fact, the non-linear additive effects of feedback loops, epistasis and other interactions are key for understanding chronic disease biology and how it impacts patient populations 2425 .  ... 
doi:10.1016/j.ailsci.2021.100003 fatcat:lm7ftwhku5f3tcebwtz4tm34ku

Genome-wide association studies of severe P. falciparum malaria susceptibility: progress, pitfalls and prospects

Delesa Damena, Awany Denis, Lemu Golassa, Emile R. Chimusa
2019 BMC Medical Genomics  
Genome-wide association studies (GWASs) have recently been implemented in malaria endemic areas and identified a number of novel association genetic variants.  ...  A comprehensive understanding of the genetic bases of severe malaria susceptibility and resistance can potentially pave ways to the development of new therapeutics and vaccines.  ...  We are very grateful to Gavin Band for his supervision and guidance in heritability analysis and his critical comments.  ... 
doi:10.1186/s12920-019-0564-x pmid:31409341 pmcid:PMC6693204 fatcat:lwwcldxsknc5dew373rftnuciq

Genome-Wide Association Studies of malaria susceptibility and resistance: progress, pitfalls and prospects [article]

Delesa Damena, Awany Denis, Lemu Golassa, Emile R. Chimusa
2018 bioRxiv   pre-print
Genome-wide association studies (GWASs) have recently been implemented in malaria endemic areas and identified a number of novel association genetic variants.  ...  Despite this success, only few variants did replicate across the studies and the underlying biology is yet to be understood for the majority of the novel variants.  ...  We are very grateful to Gavin Band for his supervision and guidance in heritability analysis and his critical comments.  ... 
doi:10.1101/456707 fatcat:6f5ay3zcwrg2lhqhcu2qoclhey

Embracing polygenicity: a review of methods and tools for psychiatric genetics research

R. M. Maier, P. M. Visscher, M. R. Robinson, N. R. Wray
2017 Psychological Medicine  
While the motivation for undertaking genome-wide association studies (GWAS) is identification of genetic markers associated with complex traits, once generated these data can be used for many other analyses  ...  New methods to analyse data from GWAS are increasingly being used to address a diverse set of questions about the aetiology of complex traits and diseases, including psychiatric disorders.  ...  Not applicable.  ... 
doi:10.1017/s0033291717002318 pmid:28847336 pmcid:PMC6088780 fatcat:3ouatghxvvhdvei355xuhda47a

42nd European Mathematical Genetics Meeting (EMGM) 2014, April 1-2, 2014, Cologne, Germany: Abstracts

2013 Human Heredity  
The aim of most genetic epidemiological studies is to identify an association between a disease and a chromosomal region.  ...  In population genetics one aim is to identify population stratification, and I will argue in the second part that the study of religious, cultural, and political differences between groups can be helpful  ...  O-15 Identification of Rare Causal Variants in Sequence-Based Studies: Methods and Applications to Gene VPS13B, Involved in Cohen Syndrome and Autism Here, a novel omics association analysis technique  ... 
doi:10.1159/000360587 fatcat:nc5mdmjfrfc2tfwa3tbmwj2nmm

Obesity and genomics: role of technology in unraveling the complex genetic architecture of obesity

Yamunah Devi Apalasamy, Zahurin Mohamed
2015 Human Genetics  
to the original source of publication and a link is inserted to the published article on Springer's website.  ...  If you wish to self-archive your article, please use the accepted manuscript version for posting on your own website.  ...  This is a hypothesis-driven approach of which the loci/genes to be studied are selected based on a priori knowledge.  ... 
doi:10.1007/s00439-015-1533-x pmid:25687726 fatcat:tlw53ducbrbflbxr6asbrszeym

44th European Mathematical Genetics Meeting (EMGM) 2016. Newcastle upon Tyne, UK, May 11-12, 2016: Abstracts

2015 Human Heredity  
We adapt this model to the genetic association setting in order to identify features predictive of shared associations at a SNP, accounting for the marginal trait associations; each subject corresponds  ...  In clinical studies, inter-rater agreement approaches are often used to assess agreement among expert/rater opinions on the presence/absence of a complex disease for each subject.  ...  assigned to genes based on the locations in build 37.3 of the human reference genome.  ... 
doi:10.1159/000445228 pmid:27111916 fatcat:553k64equ5f7lkbhpwun7nbgkm

Genomic architecture of pharmacological efficacy and adverse events

Aparna Chhibber, Deanna L Kroetz, Kelan G Tantisira, Michael McGeachie, Cheng Cheng, Robert Plenge, Eli Stahl, Wolfgang Sadee, Marylyn D Ritchie, Sarah A Pendergrass
2014 Pharmacogenomics (London)  
, extend studies across ancestral populations, and prioritize laboratory characterization of molecular mechanisms.  ...  Future research must account for the combined effects of multiple genetic variants, incorporate pathway-based approaches, explore gene-gene interactions and nonprotein coding functional genetic variants  ...  Acknowledgments The authors thank the Pharmacogenomics Research Network (PGRN) and its trans-network project on 'Polygenic  ... 
doi:10.2217/pgs.14.144 pmid:25521360 pmcid:PMC4308414 fatcat:harmjdduwzfzhjli4kb3fvnfsm

Polygenic Risk Scores Contribute to Personalized Medicine of Parkinson's Disease

Mohammad Dehestani, Hui Liu, Thomas Gasser
2021 Journal of Personalized Medicine  
Although there are limitations to the construction and application of PRS, such as considerations of limited genetic underpinning of diseases explained by SNPs and generalizability of PRS to other populations  ...  The overall polygenic risk is the result of a large number of common low-risk variants discovered by large genome-wide association studies (GWAS).  ...  Their frequencies in a population are identified through genome-wide association studies.  ... 
doi:10.3390/jpm11101030 pmid:34683174 fatcat:6uvnxgvuxzgpfdvp2wkrbhlk7q

Data mining approaches for genome-wide association of mood disorders

Mehdi Pirooznia, Fayaz Seifuddin, Jennifer Judy, Pamela B. Mahon, James B. Potash, Peter P. Zandi
2012 Psychiatric Genetics  
The genetic etiology of mood disorders appears to be quite complex, and as a result, alternative approaches for analyzing GWAS data are needed.  ...  A major breakthrough in elucidating the genetic architecture of mood disorders was anticipated with the advent of genomewide association studies (GWAS).  ...  Acknowledgments The authors express their profound appreciation to the families who participated in this project, and to the many clinicians who facilitated the referral of participants to the study.  ... 
doi:10.1097/ypg.0b013e32834dc40d pmid:22081063 pmcid:PMC3306768 fatcat:a6zeerbuh5atra252cizpajppi

Could personalised risk prediction for type 2 diabetes using polygenic risk scores direct prevention, enhance diagnostics, or improve treatment?

Mathilde Boecker, Alvina G. Lai
2020 Wellcome Open Research  
Before PRSs can be used as a therapeutic tool, it is important that further polygenic risk models are derived using non-European genome-wide association studies to ensure that risk prediction is accurate  ...  Genome-wide association studies have identified ~400 variants associated with T2D that can be used to calculate polygenic risk scores (PRS).  ...  Recent studies suggest that, for a subset of diseases, our knowledge of underlying genetics is comprehensive enough now to enable polygenic risk profiling based on PRS for personal and clinical use 8  ... 
doi:10.12688/wellcomeopenres.16251.1 fatcat:edjyznvtxvf5xoi4vomseqk5eq

Current Developments of Clinical Sequencing and the Clinical Utility of Polygenic Risk Scores in Inflammatory Diseases

Matthias Hübenthal, Britt-Sabina Löscher, Jeanette Erdmann, Andre Franke, Damian Gola, Inke R. König, Hila Emmert
2021 Frontiers in Immunology  
clinical utility of polygenic risk scores as well as its implication on precision medicine in the field of the inflammatory diseases inflammatory bowel disease, atopic dermatitis and coronary artery disease  ...  While polygenic risk scores represent promising tools for the stratification of patient groups, currently, polygenic risk scores are not accurate enough for clinical setting.  ...  Association Studies Point to Roles for Common and Rare Variants in AD Atopic dermatitis is a complex, polygenic, chronic cutaneous disorder.  ... 
doi:10.3389/fimmu.2020.577677 pmid:33633722 pmcid:PMC7901950 fatcat:ss4invtdpbh5td4dm25jqpnsja

A Systematic Review of Polygenic Models for Predicting Drug Outcomes

Angela Siemens, Spencer J. Anderson, S. Rod Rassekh, Colin J. D. Ross, Bruce C. Carleton
2022 Journal of Personalized Medicine  
While nearly all studies found a significant association with their polygenic model and the investigated drug outcome (93.3%), less than half (47.2%) compared the performance of the polygenic model against  ...  Polygenic models have emerged as promising prediction tools for the prediction of complex traits.  ...  Thus, it remains to be seen whether guidelines for disease polygenic models are applicable to pharmacogenetic models, and if so, consensus must be reached on the one(s) to follow in order to facilitate  ... 
doi:10.3390/jpm12091394 pmid:36143179 fatcat:g54i6xofkvax5fced2nmdfsnqi
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