Variable population prevalence estimates of germline TP53 variants: A gnomAD‐based analysis
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23673
Abstract: Reports of variable cancer penetrance in Li–Fraumeni syndrome (LFS) have raised questions regarding the prevalence of pathogenic germline TP53 variants. We previously reported higher‐than‐expected population prevalence estimates in sequencing databases composed of individuals unselected for… read more here.
Keywords: prevalence estimates; tp53 variants; prevalence; germline tp53 ... See more keywords
Prevalence and phenotypes of JAK2 V617F and Calreticulin mutations in a Danish general population.
Sign Up to like & getrecommendations! Published in 2019 at "Blood"
DOI: 10.1182/blood.2019001113
Abstract: The JAK2 V617F and Calreticulin mutations (CALR) are frequent driver mutations within the myeloproliferative neoplasms (MPN). JAK2 V617F has been detected in the general population but no studies have previously investigated the prevalence of CALR… read more here.
Keywords: jak2 v617f; blood; v617f calreticulin; population prevalence ... See more keywords
The prevalence of diagnosed chronic conditions and multimorbidity in Australia: A method for estimating population prevalence from general practice patient encounter data
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DOI: 10.1371/journal.pone.0172935
Abstract: Objectives To estimate the prevalence of common chronic conditions and multimorbidity among patients at GP encounters and among people in the Australian population. To assess the extent to which use of each individual patient’s GP… read more here.
Keywords: chronic conditions; diagnosed chronic; prevalence; population prevalence ... See more keywords
Bayesian inference of population prevalence
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DOI: 10.7554/elife.62461
Abstract: Within neuroscience, psychology, and neuroimaging, the most frequently used statistical approach is null hypothesis significance testing (NHST) of the population mean. An alternative approach is to perform NHST within individual participants and then infer, from… read more here.
Keywords: psychology; population; prevalence; population prevalence ... See more keywords