Candidate lung tumor susceptibility genes identified through whole-genome association analyses in inbred mice

2006 ◽  
Vol 38 (8) ◽  
pp. 888-895 ◽  
Author(s):  
Pengyuan Liu ◽  
Yian Wang ◽  
Haris Vikis ◽  
Anna Maciag ◽  
Daolong Wang ◽  
...  
2011 ◽  
Vol 89 (4) ◽  
pp. 988-995 ◽  
Author(s):  
S. K. Onteru ◽  
B. Fan ◽  
M. T. Nikkilä ◽  
D. J. Garrick ◽  
K. J. Stalder ◽  
...  

2021 ◽  
Vol 12 ◽  
Author(s):  
Brandon N. S. Ooi ◽  
Raechell ◽  
Ariel F. Ying ◽  
Yong Zher Koh ◽  
Yu Jin ◽  
...  

Background:Statins can cause muscle symptoms resulting in poor adherence to therapy and increased cardiovascular risk. We hypothesize that combinations of potentially functional SNPs (pfSNPs), rather than individual SNPs, better predict myalgia in patients on atorvastatin. This study assesses the value of potentially functional single nucleotide polymorphisms (pfSNPs) and employs six machine learning algorithms to identify the combination of SNPs that best predict myalgia.Methods: Whole genome sequencing of 183 Chinese, Malay and Indian patients from Singapore was conducted to identify genetic variants associated with atorvastatin induced myalgia. To adjust for confounding factors, demographic and clinical characteristics were also examined for their association with myalgia. The top factor, sex, was then used as a covariate in the whole genome association analyses. Variants that were highly associated with myalgia from this and previous studies were extracted, assessed for potential functionality (pfSNPs) and incorporated into six machine learning models. Predictive performance of a combination of different models and inputs were compared using the average cross validation area under ROC curve (AUC). The minimum combination of SNPs to achieve maximum sensitivity and specificity as determined by AUC, that predict atorvastatin-induced myalgia in most, if not all the six machine learning models was determined.Results: Through whole genome association analyses using sex as a covariate, a larger proportion of pfSNPs compared to non-pf SNPs were found to be highly associated with myalgia. Although none of the individual SNPs achieved genome wide significance in univariate analyses, machine learning models identified a combination of 15 SNPs that predict myalgia with good predictive performance (AUC >0.9). SNPs within genes identified in this study significantly outperformed SNPs within genes previously reported to be associated with myalgia. pfSNPs were found to be more robust in predicting myalgia, outperforming non-pf SNPs in the majority of machine learning models tested.Conclusion: Combinations of pfSNPs that were consistently identified by different machine learning models to have high predictive performance have good potential to be clinically useful for predicting atorvastatin-induced myalgia once validated against an independent cohort of patients.


2008 ◽  
Vol 4 ◽  
pp. T597-T597
Author(s):  
Matthias Riemenschneider ◽  
Patricia Friedrich ◽  
Simon M. Laws ◽  
Caroline Graff ◽  
Alexander Kurz ◽  
...  

2019 ◽  
Author(s):  
Brian E. Cade ◽  
Jiwon Lee ◽  
Tamar Sofer ◽  
Heming Wang ◽  
Man Zhang ◽  
...  

AbstractSleep-disordered breathing (SDB) is a common disorder associated with significant morbidity. Through the NHLBI Trans-Omics for Precision Medicine (TOPMed) program we report the first whole-genome sequence analysis of SDB. We identified 4 rare gene-based associations with SDB traits in 7,988 individuals of diverse ancestry and 4 replicated common variant associations with inclusion of additional samples (n=13,257). We identified a multi-ethnic set-based rare-variant association (p = 3.48 × 10−8) on chromosome X with ARMCX3. Transcription factor binding site enrichment identified associations with genes implicated with respiratory and craniofacial traits. Results highlighted associations in genes that modulate lung development, inflammation, respiratory rhythmogenesis and HIF1A-mediated hypoxic response.


2007 ◽  
Vol 123 ◽  
pp. S172
Author(s):  
John Rioux ◽  
Ramnik Xavier ◽  
Kent Taylor ◽  
Philippe Goyette ◽  
Mark Silverberg ◽  
...  

2012 ◽  
Vol 44 (10) ◽  
pp. 1166-1170 ◽  
Author(s):  
Gulnara R Svishcheva ◽  
Tatiana I Axenovich ◽  
Nadezhda M Belonogova ◽  
Cornelia M van Duijn ◽  
Yurii S Aulchenko

BMC Genetics ◽  
2017 ◽  
Vol 18 (1) ◽  
Author(s):  
Lucas L. Verardo ◽  
Marja-Liisa Sevón-Aimonen ◽  
Timo Serenius ◽  
Ville Hietakangas ◽  
Pekka Uimari

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