Identification of novel variants associated with warfarin stable dosage by use of a two‐stage extreme phenotype strategy
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Thrombosis and Haemostasis"
DOI: 10.1111/jth.13542
Abstract: Essentials Required warfarin doses for mechanical heart valves vary greatly. A two‐stage extreme phenotype design was used to identify novel warfarin dose associated mutation. We identified a group of variants significantly associated with extreme warfarin… read more here.
Keywords: novel; stage extreme; extreme phenotype; two stage ... See more keywords
Assessing gene-environment interaction effects of FTO, MC4R and lifestyle factors on obesity using an extreme phenotype sampling design: Results from the HUNT study
Sign Up to like & getrecommendations! Published in 2017 at "PLoS ONE"
DOI: 10.1371/journal.pone.0175071
Abstract: Background Our aim was to assess the influence of age, gender and lifestyle factors on the effect of the obesity-promoting alleles of FTO and MCR4. Methods The HUNT study comprises health information on the population… read more here.
Keywords: phenotype; lifestyle factors; hunt study; phenotype sampling ... See more keywords
The “extreme phenotype approach” applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles
Sign Up to like & getrecommendations! Published in 2023 at "Oncotarget"
DOI: 10.18632/oncotarget.28358
Abstract: In oncogenetics, some patients could be considered as “extreme phenotypes”, such as those with very early onset presentation or multiple primary malignancies, unusually high numbers of cancers of the same spectrum or rare cancer types… read more here.
Keywords: rare variants; breast; male breast; breast cancer ... See more keywords
A Cautionary Note on the Effects of Population Stratification Under an Extreme Phenotype Sampling Design
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2019.00398
Abstract: Extreme phenotype sampling (EPS) is a popular study design used to reduce genotyping or sequencing costs. Assuming continuous phenotype data are available on a large cohort, EPS involves genotyping or sequencing only those individuals with… read more here.
Keywords: phenotype; phenotype sampling; extreme phenotype; population stratification ... See more keywords