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

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 …

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

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 …

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 …

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

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 …

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 …

The overall diagnostic yield of massively parallel sequencing–based tests in patients with
chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% for adult cases. These …

Cas12a‐based systems, which detect specific nucleic acids via collateral cleavage of
reporter DNA, display huge potentials for rapid diagnosis of infectious diseases. Here, the …