Meaningful analysis of next-generation sequencing (NGS) data, which are produced
extensively by genetics and genomics studies, relies crucially on the accurate calling of …

Genetic factors strongly affect susceptibility to common diseases and also influence disease-
related quantitative traits. Identifying the relevant genes has been difficult, in part because …

Motivation: Most existing methods for DNA sequence analysis rely on accurate sequences
or genotypes. However, in applications of the next-generation sequencing (NGS), accurate …

Purpose: To study the levels of complement activation in different disease stages of AMD
and the influence of genetic polymorphisms in complement genes. Methods: We included …

This book is intended to provide fundamental statistical concepts and tools relevant to the
analysis of genetic data arising from population-based association studies. Elementary …

A web-based application has been designed from a genetic epidemiology point of view to
analyze association studies. Main capabilities include descriptive analysis, test for Hardy …

Here we describe an R library for genome-wide association (GWA) analysis. It implements
effective storage and handling of GWA data, fast procedures for genetic data quality control …

Although individual behaviors have not been proven to have a strong influence on the risk of
preterm birth, consistent evidence suggests that a constellation of favorable lifestyle factors …

Age-related macular degeneration (AMD) is a common, late-onset, and complex trait with
multiple risk factors. Concentrating on a region harboring a locus for AMD on 1q25-31, the …

Breast cancer exhibits familial aggregation, consistent with variation in genetic susceptibility
to the disease. Known susceptibility genes account for less than 25% of the familial risk of …