Next-generation sequencing (NGS) allows sequencing of a high number of nucleotides in a
short time frame at an affordable cost. While this technology has been widely implemented …

Background. Next‐generation sequencing methods have been developed and proposed to
investigate any query in genomics or clinical activity involving DNA. Technical advancement …

The majority of rare diseases affect children, most of whom have an underlying genetic
cause for their condition. However, making a molecular diagnosis with current technologies …

With the emergence of RNA sequencing (RNA-seq) technologies, RNA-based biomolecules
hold expanded promise for their diagnostic, prognostic and therapeutic applicability in …

The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex
and expensive, tests. In many cases, however, the diagnosis remains difficult despite the …

Abstract Characterization and integration of the genome, epigenome, transcriptome,
proteome and metabolome of different datasets is difficult owing to a lack of ground truth …

Context.—Next-generation sequencing (NGS) is a technology being used by many
laboratories to test for inherited disorders and tumor mutations. This technology is new for …

Next-generation sequencing (NGS) is a new technology used for DNA and RNA sequencing
and variant/mutation detection. NGS can sequence hundreds and thousands of genes or …

Candidiasis is a highly pervasive infection posing major health risks, especially for
immunocompromised populations. Pathogenic Candida species have evolved intrinsic and …

In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published
by EuroGentest in order to assist laboratories in the implementation and accreditation of …