… traits in sequencing studies. Here we provided an overview of the application fields for exome
sequencing in human diseases. … and bioinformatics for handling sequencing data. We then …

… This review focuses on what whole exome sequencing (WES) using NGS can teach us
about human disease, starting with single gene disorders and moving on to more complex …

… WES has been used in identifying genetic variants associated with a variety of diseases.
Here, we discuss different categories of inherited human disease and the methodology …

… exome sequencing for Mendelian diseases, we investigated the exome coverage of known
disease… variants annotated as disease-causing in the Human Genome Mutation Database …

… Rather than screening the 35 genes known to contain mutations causing this disease, the
investigators used exome sequencing in two affected family members; with these data they …

… We identified four new candidate human disease genes and possibly expanded the
disease phenotypes associated with five different genes. Establishing a diagnosis led to …

… Sequencing the coding regions, the exome, of the human genome is one of the major …
associated with human disease traits. So far, the most widely used commercial exome capture …

… cause disease (Macarthur and Tyler-Smith 2010). To understand the potential of exome
sequencing in areas other than disease variant discovery, which is the main focus in human …

… application in disease treatment, screening and prenatal diagnosis. A 15-month-old boy
with an immune deficiency was exome sequenced and diagnosed as Crohn disease due to a …

… exome sequencing as a tool for disease gene discovery and to describe some of the key
challenges in using this approach. We review how exome sequencing … of exome sequencing in …