Structural variants are genomic rearrangements larger than 50 bp accounting for around 1%
of the variation among human genomes. They impact on phenotypic diversity and play a role …

At least 10% of adults and nearly all children who receive renal-replacement therapy have
an inherited kidney disease. These patients rarely die when their disease progresses and …

Oxford Nanopore's third‐generation single‐molecule sequencing platform promises to
decrease costs for reagents and instrumentation. After a 2‐year hiatus following the initial …

Although advances in genomics during the last decade have opened new avenues for
translational research and allowed the direct evaluation of clinical samples, there is still a …

Genetics is the study of heredity, which means the study of genes and factors related to all
aspects of genes. The scientific history of genetics began with the works of Gregor Mendel in …

BACKGROUND Next generation sequencing (NGS)-based assays continue to redefine the
field of genetic testing. Owing to the complexity of the data, bioinformatics has become a …

BACKGROUND The use of cytology specimens for next‐generation sequencing (NGS) is
particularly challenging because of the unconventional substrate of smears and the often …

Context.—As our understanding of genomic alterations underlying solid tumor malignancies
continues to evolve, molecular testing of tumor samples is increasingly used to guide …

The wide application of next-generation sequencing (NGS), mainly through whole genome,
exome and transcriptome sequencing, provides a high-resolution and global view of the …

Application of next-generation sequencing (NGS) technology to routine clinical practice has
enabled characterization of personalized cancer genomes to identify patients likely to have …