Advances in whole-genome sequencing have greatly reduced the cost and time of obtaining
raw genetic information, but the computational requirements of analysis remain a challenge …

The vast majority of human mutations have minor allele frequencies (MAF) under 1%, with
the plurality observed only once (ie,“singletons”). While Mendelian diseases are …

A downside of next-generation sequencing technology is the high technical error rate. We
built a tool, which uses array-based genotype information to classify next-generation …

Objective This study aimed to characterize the gene expression profile at the early stages of
the healing process of post-traumatic joint contracture (PTJC). Methods Twelve rats were …

Evaluating next-generation sequencing (NGS) performance suffers frequently from the
absence of gold standard. Without gold standard, researchers often carry out replicates from …

L'imputation est désormais un outil essentiel dans l'analyse des études d'association à
l'échelle du génome, permettant l'estimation de génotypes à des positions variables du …

This chapter presents an outline of the basic wet lab procedures to prepare the sample's
DNA for whole-genome sequencing (WGS). It follows an overview and benefits of the …