Dataset Information

Effects of updating linkage evidence across subsets of data: reanalysis of the autism genetic resource exchange data set.

ABSTRACT: Results of autism linkage studies have been difficult to interpret across research groups, prompting the use of ever-increasing sample sizes to increase power. However, increasing sample size by pooling disparate collections for a single analysis may, in fact, not increase power in the face of genetic heterogeneity. Here, we applied the posterior probability of linkage (PPL), a method designed specifically to analyze multiple heterogeneous data sets, to the Autism Genetic Resource Exchange collection of families by analyzing six clinically defined subsets of the data and updating the PPL sequentially over the subsets. Our results indicate a substantial probability of linkage to chromosome 1, which had been previously overlooked; our findings also provide a further characterization of the possible parent-of-origin effects at the 17q11 locus that were previously described in this sample. This analysis illustrates that the way in which heterogeneity is addressed in linkage analysis can dramatically affect the overall conclusions of a linkage study.

SUBMITTER: Bartlett CW

PROVIDER: S-EPMC1199306 | biostudies-literature | 2005 Apr

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Effects of updating linkage evidence across subsets of data: reanalysis of the autism genetic resource exchange data set.

Bartlett Christopher W CW Goedken Rhinda R Vieland Veronica J VJ

American journal of human genetics 20050223 4

Results of autism linkage studies have been difficult to interpret across research groups, prompting the use of ever-increasing sample sizes to increase power. However, increasing sample size by pooling disparate collections for a single analysis may, in fact, not increase power in the face of genetic heterogeneity. Here, we applied the posterior probability of linkage (PPL), a method designed specifically to analyze multiple heterogeneous data sets, to the Autism Genetic Resource Exchange colle ...[more]

PMID: 15729670

Similar Datasets

Project description:IntroductionThe International Index of Erectile Function (IIEF) is the predominant patient-reported outcomes instrument for assessing male sexual function. There are obvious problems with the use of the IIEF in the assessment of an individual patient, such as for men who use injections and men who do not engage in intercourse.AimThe aim of the current study is to redesign the erectile function domain of the IIEF (IIEF6) to more accurately assess the individual patient.MethodsIn an observational study of men undergoing treatment for prostate cancer at a tertiary care institution, including 24,732 questionnaires completed by 6,780 individuals, IIEF6 scores were compared for patients using and not using erectile aids. Men not engaging in sexual intercourse were asked to describe the reason.Main outcome measureThe main outcome we were seeking was the IIEF6 scores.ResultsMean scores before erectile aids items were added was 17.7 compared with predicted scores of 18.3 vs 16.7 if patients reported their function with vs without the use of aids. No intercourse was reported for 35% of surveys. Reasons given were lack of ability or confidence in 53%, lack of willing and available partner in 28%, "other" in 17% (including respondent's or partner's health issues, low libido, preference for nonpenetrative sex or for sex with men). Doubling the sum of the 3 nonintercourse IIEF6 questions had excellent properties (difference of 0.06, limits of agreement -3.10 to 3.22).Clinical implicationsErectile function instruments must include items about erectile aids. Men who report that they have not attempted intercourse should not be assumed to have erectile dysfunction, but should be asked the reason why. For men who report lack of opportunity or preference for intercourse, the score of the 3 nonintercourse IIEF6 questions should be doubled.Strengths & limitationsThis is a large study of patients in a real-world setting. Although the study only includes radical prostatectomy patients, and although the study cohort is not fully representative of the US prostate cancer population as a whole, these issues would not affect the key findings.ConclusionThe IIEF6 can be redesigned to better assess the individual patient. Vickers AJ, Tin AL, Singh K, et al. Updating the International Index of Erectile Function: Evaluation of a Large Clinical Data Set. J Sex Med 2020;17:126-132.

Dataset Information

Effects of updating linkage evidence across subsets of data: reanalysis of the autism genetic resource exchange data set.

Publications

Effects of updating linkage evidence across subsets of data: reanalysis of the autism genetic resource exchange data set.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure