... Abstract The practice of diagnostic cytopathology has seen a paradigm shift with the increasing use of cytopathology specimens for molecular testing. Next-generation sequencing (NGS) provides a multiplexed high-throughput sequencing platform that can simultaneously evaluate multiple genes...

... of large families for successful positional cloning. Major technological advancements in the past decade have empowered high-throughput next-generation sequencing approaches that have already facilitated the recognition of over 30 genes since 2010 and shifted hurdles away from achieving economical and time...

... Abstract Advances in sequencing technologies are having a major impact on our understanding of the genetic causes of many human congenital disorders. Next generation sequencing (NGS) approaches are particularly important for determining the inherited genetic changes leading to disorders of sex...

... Abstract Next-generation sequencing enables interrogation of the full catalog of human genetic variation. To appropriately interpret these data and identify genetic risk factors for type 2 diabetes (T2D), logistical and analytical challenges associated with large-scale next-generation...

... the genetic subtype defines the treatment. Mutations in at least 26 genes have been identified through studies using genetic linkage, candidate gene sequencing and most recently, exome sequencing. With the advent of next-generation sequencing technology, it is now possible to do a single test to identify...

... Abstract Severe resistance to the metabolic actions of insulin is seen in a range of heterogeneous genetic disorders. Traditionally, linkage studies, homozygosity mapping, and candidate gene sequencing have been the mainstay of efforts to discover the genes harbouring the underlying causal...

... Abstract Bacterial pathogens are being sequenced at an increasing rate. To many microbiologists, it appears that there simply is not enough time to digest all the information suddenly available. In this chapter we present several tools for comparison of sequenced pathogenic genomes, and discuss...

... diversity within this genus, including genome sequences that are not completely finished, but are available from the NCBI database. Defining the pan- and core genomes of species results in insights in the conserved and variable fraction of genomes, and can verify (or question) historic, taxonomic groupings...

... Abstract Duplicated genes can undergo different fates, from nonfunctionalization to subfunctionalizationand neofunctionalization. In particular, changes in regulatory sequences affectingthe expression domain of genes seem to be responsible for the latter two fates. In thisstudy we used...

... Abstract The long association between the stomach bacterium Helicobacter pylori and humans, in combination with its predominantly within-family transmission route and its exceptionally high DNA sequence diversity, make this bacterium a reliable marker for discerning both recent and ancient...

... of the many ways that TEs contribute to the function and evolution ofthe genomes in which they reside is through the donation of host protein coding sequences(CDSs). In this chapter, we will describe several notable examples of eukaryotic host CDSsthat are derived from TEs. Despite the existence of a number...