Exome sequencing of parent-offspring trios is a popular strategy for identifying causative
genetic variants in children with rare diseases. This method owes its strength to the …

Pedigree, linkage and association studies are consistent with heritable variation for complex
disease due to the segregation of genetic factors in families and in the population. In …

Patients with developmental disorders often harbour sub-microscopic deletions or
duplications that lead to a disruption of normal gene expression or perturbation in the copy …

Many exome sequencing studies of Mendelian disorders fail to optimally exploit family
information. Classical genetic linkage analysis is an effective method for eliminating a large …

Although genome‐wide association studies have been successful in detecting associations
with common variants, there is currently an increasing interest in identifying low‐frequency …

For almost 15 years, genome research has focused on the search for major risk factors in
common diseases, with disappointing results. Only recently, whole-genome association …

Recessive diseases arise when both copies of a gene are impacted by a damaging genetic
variant. When a patient carries two potentially causal variants in a gene, accurate diagnosis …

Human genetics is now at a critical juncture. The molecular methods used successfully to
identify the genes underlying rare mendelian syndromes are failing to find the numerous …

The phenomenon of genomic imprinting describes the differential behavior of genes
depending on their parental origin, and has been demonstrated in a few rare genetic …

We report the results of clinical exome sequencing (CES) on> 2,200 previously unpublished
Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed …