Clinical genetics has an important role in the healthcare system to provide a definitive
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …

Inflammatory bowel diseases (IBDs) are complex, multifactorial disorders characterized by
chronic relapsing intestinal inflammation. Although etiology remains largely unknown, recent …

Synonymous mutations in protein-coding genes do not alter protein sequences and are thus
generally presumed to be neutral or nearly neutral,,,–. Here, to experimentally verify this …

Genomics is a relatively new scientific discipline, having DNA sequencing as its core
technology. As technology has improved the cost and scale of genome characterization over …

Aside from inheriting half of the genome of each of our parents, we are born with a small
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …

The analysis of polymorphism data is becoming increasingly important as a complementary
tool to classical genetic analyses. Nevertheless, despite plunging sequencing costs …

Exomiser is an application that prioritizes genes and variants in next-generation sequencing
(NGS) projects for novel disease-gene discovery or differential diagnostics of Mendelian …

Recent advances in genome sequencing technologies provide unprecedented opportunities
to characterize individual genomic landscapes and identify mutations relevant for diagnosis …

Next-generation sequencing is changing the paradigm of clinical genetic testing. Today
there are numerous molecular tests available, including single-gene tests, gene panels, and …

The advent of massive parallel sequencing is rapidly changing the strategies employed for
the genetic diagnosis and research of rare diseases that involve a large number of genes …