… exome sequencing as a tool for disease gene discovery and to … how exome sequencing is
being used to identify genes that … the application of exome sequencing in clinical diagnostics …

… ‐exome sequencing (WES), target capture methods are used to enrich the sequences of the
coding regions of genes … , ‘next‐generation’ sequencing of the captured fragments. Since its …

… gene discovery … sequencing technologies can be used to search for novel high and
moderate BC risk variants, and this manuscript reviews 12 familial BC whole-exome sequencing …

… difficulty in prioritizing candidate genes for diagnostic testing. Here, we explore the value of
exome sequencing as a diagnostic tool and discuss whether exome sequencing can come to …

… -gene discovery or differential diagnostics of Mendelian disease. Exomiser comprises a suite
of algorithms for prioritizing exome sequences … it to prioritize exome sequences in a number …

… -exome sequencing to identify disease-causing genes and … ; alternatively, genetic
discoveries regarding orthopaedic … -exome sequencing can begin to revolutionize our genetic …

… We discuss the challenges of using whole exome sequencing for gene discovery in fetal
disorders but also point out its great potential for understanding genetic origins of disorders of …

… Our knowledge of disease genes in neurological disorders is incomplete. With the aim of …
-exome sequencing on 143 multiplex consanguineous families in whom known disease genes …

… There are several examples of novel pathways discovered through exome sequencing of
patients with monogenic disorders. The discovery of ADK deficiency described above …

… is still limited in throughput and too costly to be applied as the main tool for disease gene
discovery, different capturing approaches have been developed to enrich the …