BACKGROUND: Imputation of untyped markers is a standard tool in genome-wide association studies to close the gap between directly genotyped and other known DNA variants. However, high accuracy with which genotypes are imputed is fundamental. Several accuracy measures have been proposed and some are implemented in imputation software, unfortunately diversely across platforms. In the present paper, we introduce Iam hiQ, an independent pair of accuracy measures that can be applied to dosage files, the output of all imputation software. Iam (imputation accuracy measure) quantifies the average amount of individual-specific versus population-specific genotype information in a linear manner. hiQ (heterogeneity in quantities of dosages) addresses the inter-individual heterogeneity between dosages of a marker across the sample at hand. RESULTS: Applying both measures to a large case-control sample of the International Lung Cancer Consortium (ILCCO), comprising 27,065 individuals, we found meaningful thresholds for Iam and hiQ suitable to classify markers of poor accuracy. We demonstrate how Manhattan-like plots and moving averages of Iam and hiQ can be useful to identify regions enriched with less accurate imputed markers, whereas these regions would by missed when applying the accuracy measure info (implemented in IMPUTE2). CONCLUSION: We recommend using Iam hiQ additional to other accuracy scores for variant filtering before stepping into the analysis of imputed GWAS data.

In multiplicative fading channels, joint channel estimation and data detection (CE/DD) schemes cannot differentiate among certain sequences of amplitude- and/or phase-modulated (AM/PM) symbols drawn from rotationally invariant signal constellations. This paper identifies these so-called isometric sequences as the main source of performance degradation, and introduces a unifying framework that effectively solves the problem by using asymmetric signal constellations (ASC) and a normalized innovations-based detector. The encompassing nature of the solution is clearly demonstrated by showing that seemingly unrelated previous results, such as training-based solutions, can be viewed as special cases of the modulation-based solution discussed here. A comprehensive analysis, supported by simulation studies, of the relationships among modulation schemes, isometry, and detection performance is provided. Results indicate that the proposed ASC solution offers excellent performance without incurring significant complexity or reducing the transmission rate. Furthermore, it is shown to be robust in various fading rates, and for different signal constellations.