Allele-sharing among affected relatives: non-parametric methods for identifying genes.

Abstract:

:Non-parametric linkage analysis examines similarities among affected relatives in alleles of one or more genetic markers (pieces of DNA at known locations on a chromosome). The objective is to evaluate departures from the null hypothesis that the markers are not near a disease gene. Under the null hypothesis, Mendel's laws give the probabilities that a set of relatives exhibits a particular allele-sharing pattern, and the null hypothesis is rejected if the extent of allele sharing among affected relatives exceeds Mendelian expectation. Because the rationale for allele-sharing methods is intuitively plausible and easily grasped, geneticists have used these methods for more than 30 years, well before the advent of the large sets of polymorphic markers that have made linkage analysis so fruitful today. Here we describe methods for assessing whether the extent of marker allele sharing among affected relatives exceeds Mendelian expectation. We first quantify the notion of allele sharing and the probabilities of allele sharing in various sets of relatives. Then we describe allele sharing methods for affected sibs and more general sets of relatives. We also discuss related issues of test size and power. We conclude with a brief discussion of areas in need of further research.

journal_name

Stat Methods Med Res

authors

Shih MC,Whittemore AS

doi

10.1177/096228020101000103

subject

Has Abstract

pub_date

2001-02-01 00:00:00

pages

27-55

issue

1

eissn

0962-2802

issn

1477-0334

journal_volume

10

pub_type

杂志文章,评审
  • A monotone data augmentation algorithm for longitudinal data analysis via multivariate skew-t, skew-normal or t distributions.

    abstract::The mixed effects model for repeated measures has been widely used for the analysis of longitudinal clinical data collected at a number of fixed time points. We propose a robust extension of the mixed effects model for repeated measures for skewed and heavy-tailed data on basis of the multivariate skew-t distribution,...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280219865579

    authors: Tang Y

    更新日期:2020-06-01 00:00:00

  • Statistical methods in genetic research on smoking.

    abstract::A growing body of evidence suggests that genetic factors have an important influence on the onset and course of smoking. Here we review some of the statistical methods that have been used to test for genetic influences on smoking behaviour, with a particular focus on studies of large national twin samples. We show how...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章,评审

    doi:10.1177/096228029800700205

    authors: Heath AC,Madden PA,Martin NG

    更新日期:1998-06-01 00:00:00

  • A mixed-effects, spatially varying coefficients model with application to multi-resolution functional magnetic resonance imaging data.

    abstract::Spatial resolution plays an important role in functional magnetic resonance imaging studies as the signal-to-noise ratio increases linearly with voxel volume. In scientific studies, where functional magnetic resonance imaging is widely used, the standard spatial resolution typically used is relatively low which ensure...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280217752378

    authors: Liu Z,Bartsch AJ,Berrocal VJ,Johnson TD

    更新日期:2019-04-01 00:00:00

  • Performance of informative priors skeptical of large treatment effects in clinical trials: A simulation study.

    abstract::One of the main advantages of Bayesian analyses of clinical trials is their ability to formally incorporate skepticism about large treatment effects through the use of informative priors. We conducted a simulation study to assess the performance of informative normal, Student- t, and beta distributions in estimating r...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280215620828

    authors: Pedroza C,Han W,Truong VTT,Green C,Tyson JE

    更新日期:2018-01-01 00:00:00

  • Separating variability in healthcare practice patterns from random error.

    abstract::Improving the quality of care that patients receive is a major focus of clinical research, particularly in the setting of cardiovascular hospitalization. Quality improvement studies seek to estimate and visualize the degree of variability in dichotomous treatment patterns and outcomes across different providers, where...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280217754230

    authors: Thomas LE,Schulte PJ

    更新日期:2019-04-01 00:00:00

  • Testing hypotheses under adaptive randomization with continuous covariates in clinical trials.

    abstract::Covariate-adaptive designs are widely used to balance covariates and maintain randomization in clinical trials. Adaptive designs for discrete covariates and their asymptotic properties have been well studied in the literature. However, important continuous covariates are often involved in clinical studies. Simply disc...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280218770231

    authors: Li X,Zhou J,Hu F

    更新日期:2019-06-01 00:00:00

  • The application of methods to quantify attributable risk in medical practice.

    abstract::Several epidemiological parameters have been introduced for quantifying the population impact of a certain exposure on morbidity on a population level, termed 'attributable risk' (AR). Of these definitions, the AR as suggested by Levin in 1953 or some algebraic transformations of it are most commonly used. A structure...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/096228020101000305

    authors: Uter W,Pfahlberg A

    更新日期:2001-06-01 00:00:00

  • Joint nested frailty models for clustered recurrent and terminal events: An application to colonoscopy screening visits and colorectal cancer risks in Lynch Syndrome families.

    abstract::Joint models for recurrent and terminal events have not been yet developed for clustered data. The goals of our study are to develop a statistical framework for modelling clustered recurrent and terminal events and to perform dynamic predictions of the terminal event in family studies. We propose a joint nested frailt...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280219863076

    authors: Choi YH,Jacqmin-Gadda H,Król A,Parfrey P,Briollais L,Rondeau V

    更新日期:2020-05-01 00:00:00

  • Modeling fecundity in the presence of a sterile fraction using a semi-parametric transformation model for grouped survival data.

    abstract::The analysis of fecundity data is challenging and requires consideration of both highly timed and interrelated biologic processes in the context of essential behaviors such as sexual intercourse during the fertile window. Understanding human fecundity is further complicated by presence of a sterile population, i.e. co...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280212438646

    authors: McLain AC,Sundaram R,Buck Louis GM

    更新日期:2016-02-01 00:00:00

  • A comparison of machine learning methods for classification using simulation with multiple real data examples from mental health studies.

    abstract:BACKGROUND:Recent literature on the comparison of machine learning methods has raised questions about the neutrality, unbiasedness and utility of many comparative studies. Reporting of results on favourable datasets and sampling error in the estimated performance measures based on single samples are thought to be the m...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280213502437

    authors: Khondoker M,Dobson R,Skirrow C,Simmons A,Stahl D

    更新日期:2016-10-01 00:00:00

  • Regression towards the mean, historically considered.

    abstract::The simple yet subtle concept of regression towards the mean is reviewed historically. Verbal, geometric, and mathematical expressions of the concept date to the discoverer of the concept, Francis Galton. That discovery and subsequent understanding (and misunderstanding) of the concept are surveyed. ...

    journal_title:Statistical methods in medical research

    pub_type: 传,历史文章,杂志文章,评审

    doi:10.1177/096228029700600202

    authors: Stigler SM

    更新日期:1997-06-01 00:00:00

  • Multi-state Markov models in cancer screening evaluation: a brief review and case study.

    abstract::This work presents a brief overview of Markov models in cancer screening evaluation and focuses on two specific models. A three-state model was first proposed to estimate jointly the sensitivity of the screening procedure and the average duration in the preclinical phase, i.e. the period when the cancer is asymptomati...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章,评审

    doi:10.1177/0962280209359848

    authors: Uhry Z,Hédelin G,Colonna M,Asselain B,Arveux P,Rogel A,Exbrayat C,Guldenfels C,Courtial I,Soler-Michel P,Molinié F,Eilstein D,Duffy SW

    更新日期:2010-10-01 00:00:00

  • A new approach to hierarchical data analysis: Targeted maximum likelihood estimation for the causal effect of a cluster-level exposure.

    abstract::We often seek to estimate the impact of an exposure naturally occurring or randomly assigned at the cluster-level. For example, the literature on neighborhood determinants of health continues to grow. Likewise, community randomized trials are applied to learn about real-world implementation, sustainability, and popula...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280218774936

    authors: Balzer LB,Zheng W,van der Laan MJ,Petersen ML

    更新日期:2019-06-01 00:00:00

  • Optimal vaccination schemes for epidemics among a population of households, with application to variola minor in Brazil.

    abstract::This paper is concerned with stochastic models for the spread of an epidemic among a community of households, in which individuals mix uniformly within households and, in addition, uniformly at a much lower rate within the population at large. This two-level mixing structure has important implications for the threshol...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280206071643

    authors: Ball F,Lyne O

    更新日期:2006-10-01 00:00:00

  • Penalized count data regression with application to hospital stay after pediatric cardiac surgery.

    abstract::Pediatric cardiac surgery may lead to poor outcomes such as acute kidney injury (AKI) and prolonged hospital length of stay (LOS). Plasma and urine biomarkers may help with early identification and prediction of these adverse clinical outcomes. In a recent multi-center study, 311 children undergoing cardiac surgery we...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280214530608

    authors: Wang Z,Ma S,Zappitelli M,Parikh C,Wang CY,Devarajan P

    更新日期:2016-12-01 00:00:00

  • Optimal quantile level selection for disease classification and biomarker discovery with application to electrocardiogram data.

    abstract::Classification with a large number of predictors and biomarker discovery become increasingly important in biological and medical research. This paper focuses on performing classification of cardiovascular diseases based on electrocardiogram analysis which deals with many variables and a lot of measurements within vari...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280217699996

    authors: Zhou Y,Huang R,Yu S,Ma Y

    更新日期:2018-11-01 00:00:00

  • The EM algorithm in medical imaging.

    abstract::This article outlines the statistical developments that have taken place in the use of the EM algorithm in emission and transmission tomography during the past decade or so. We discuss the statistical aspects of the modelling of the projection data for both the emission and transmission cases and define the relevant p...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/096228029700600105

    authors: Kay J

    更新日期:1997-03-01 00:00:00

  • Analysis of clustered data in receiver operating characteristic studies.

    abstract::Clustered data is not simply correlated data, but has its own unique aspects. In this paper, various methods for correlated receiver operating characteristic (ROC) curve data that have been extended specifically to clustered data are reviewed. For those methods that have not yet been extended, suggestions for their ap...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章,评审

    doi:10.1177/096228029800700402

    authors: Beam CA

    更新日期:1998-12-01 00:00:00

  • A robust score test of homogeneity for zero-inflated count data.

    abstract::In many applications of zero-inflated models, score tests are often used to evaluate whether the population heterogeneity as implied by these models is consistent with the data. The most frequently cited justification for using score tests is that they only require estimation under the null hypothesis. Because this es...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280220937324

    authors: Hsu WW,Todem D,Mawella NR,Kim K,Rosenkranz RR

    更新日期:2020-12-01 00:00:00

  • Statistical methods for multivariate meta-analysis of diagnostic tests: An overview and tutorial.

    abstract::In this article, we present an overview and tutorial of statistical methods for meta-analysis of diagnostic tests under two scenarios: (1) when the reference test can be considered a gold standard and (2) when the reference test cannot be considered a gold standard. In the first scenario, we first review the conventio...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章,评审

    doi:10.1177/0962280213492588

    authors: Ma X,Nie L,Cole SR,Chu H

    更新日期:2016-08-01 00:00:00

  • Exposure-response modelling approaches for determining optimal dosing rules in children.

    abstract::Within paediatric populations, there may be distinct age groups characterised by different exposure-response relationships. Several regulatory guidance documents have suggested general age groupings. However, it is not clear whether these categorisations will be suitable for all new medicines and in all disease areas....

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280220903751

    authors: Wadsworth I,Hampson LV,Bornkamp B,Jaki T

    更新日期:2020-09-01 00:00:00

  • Components of variance in a group-randomized trial analysed via a random-coefficients model: the Rapid Early Action for Coronary Treatment (REACT) trial.

    abstract::Rapid Early Action for Coronary Treatment (REACT) was a multisite trial testing a community intervention to reduce the delay between onset of symptoms of acute myocardial infarction (MI) and patients' arrival at a hospital emergency department. The study employed a group-randomized trial design, with ten communities r...

    journal_title:Statistical methods in medical research

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1177/096228020000900204

    authors: Murray DM,Feldman HA,McGovern PG

    更新日期:2000-04-01 00:00:00

  • A generalization of functional clustering for discrete multivariate longitudinal data.

    abstract::This paper presents a new model-based generalized functional clustering method for discrete longitudinal data, such as multivariate binomial and Poisson distributed data. For this purpose, we propose a multivariate functional principal component analysis (MFPCA)-based clustering procedure for a latent multivariate Gau...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280220921912

    authors: Lim Y,Cheung YK,Oh HS

    更新日期:2020-11-01 00:00:00

  • Modelling breast cancer tumour growth for a stable disease population.

    abstract::Statistical models of breast cancer tumour progression have been used to further our knowledge of the natural history of breast cancer, to evaluate mammography screening in terms of mortality, to estimate overdiagnosis, and to estimate the impact of lead-time bias when comparing survival times between screen detected ...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280217734583

    authors: Isheden G,Humphreys K

    更新日期:2019-03-01 00:00:00

  • Reference-based pattern-mixture models for analysis of longitudinal binary data.

    abstract::Pattern-mixture model (PMM)-based controlled imputations have become a popular tool to assess the sensitivity of primary analysis inference to different post-dropout assumptions or to estimate treatment effectiveness. The methodology is well established for continuous responses but less well established for binary res...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280220941880

    authors: Lu K

    更新日期:2020-12-01 00:00:00

  • Inferring the direction of a causal link and estimating its effect via a Bayesian Mendelian randomization approach.

    abstract::The use of genetic variants as instrumental variables - an approach known as Mendelian randomization - is a popular epidemiological method for estimating the causal effect of an exposure (phenotype, biomarker, risk factor) on a disease or health-related outcome from observational data. Instrumental variables must sati...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280219851817

    authors: Bucur IG,Claassen T,Heskes T

    更新日期:2020-04-01 00:00:00

  • Statistical methods for longitudinal and clustered designs with binary responses.

    abstract::Dependent binary response data arise frequently in practice due to repeated measurements in longitudinal studies or to subsampling primary sampling units as in fields such as teratology and ophthalmology. Several classes of approaches have recently been proposed to analyse such repeated binary outcome data. The differ...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章,评审

    doi:10.1177/096228029200100303

    authors: Neuhaus JM

    更新日期:1992-01-01 00:00:00

  • An ad hoc method for dual adjusting for measurement errors and nonresponse bias for estimating prevalence in survey data: Application to Iranian mental health survey on any illicit drug use.

    abstract::Purpose The prevalence estimates of binary variables in sample surveys are often subject to two systematic errors: measurement error and nonresponse bias. A multiple-bias analysis is essential to adjust for both biases. Methods In this paper, we linked the latent class log-linear and proxy pattern-mixture models to ad...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280217690939

    authors: Khalagi K,Mansournia MA,Motevalian SA,Nourijelyani K,Rahimi-Movaghar A,Bakhtiyari M

    更新日期:2018-10-01 00:00:00

  • A multiphase non-linear mixed effects model: An application to spirometry after lung transplantation.

    abstract::In medical sciences, we often encounter longitudinal temporal relationships that are non-linear in nature. The influence of risk factors may also change across longitudinal follow-up. A system of multiphase non-linear mixed effects model is presented to model temporal patterns of longitudinal continuous measurements, ...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280214537255

    authors: Rajeswaran J,Blackstone EH

    更新日期:2017-02-01 00:00:00

  • Hybrid test for publication bias in meta-analysis.

    abstract::Publication bias frequently appears in meta-analyses when the included studies' results (e.g., p-values) influence the studies' publication processes. Some unfavorable studies may be suppressed from publication, so the meta-analytic results may be biased toward an artificially favorable direction. Many statistical tes...

    journal_title:Statistical methods in medical research

    pub_type: 杂志文章

    doi:10.1177/0962280220910172

    authors: Lin L

    更新日期:2020-10-01 00:00:00