Genomes 5 has been completely revised and updated. It is a thoroughly modern textbook
about genomes and how they are investigated. As with previous Genomes editions …

Nanofluidic structures have over the last two decades emerged as a powerful platform for
detailed analysis of DNA on the kilobase pair length scale. When DNA is confined to a …

Disclaimer: This Points to Consider document is designed primarily as an educational
resource for clinical laboratory geneticists to help them provide quality clinical laboratory …

Background Balanced reciprocal translocation is one of the most common chromosomal
abnormalities in humans that may lead to infertility, recurrent pregnancy loss, or having …

Proteins and enzymes in the cell nucleus require physical access to their DNA target sites in
order to perform genomic tasks such as gene activation and transcription. Hence, chromatin …

Motivation Optical genome mapping (OGM) is a technique that extracts partial genomic
information from optically imaged and linearized DNA fragments containing fluorescently …

Background: We report the creation and evaluation of a de novo assembly of the genome of
the spontaneously hypertensive rat, the most widely used model of human cardiovascular …

Structural variants (SVs)—including duplications, deletions, and inversions of DNA—can
have significant genomic and functional impacts but are technically difficult to identify and …

The molecular basis of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome remains largely
unknown. Pathogenic variants in WNT4 and HNF1B have been confirmed in a small percent …

Motivation Efficient tapping into genomic information from a single microscopic image of an
intact DNA molecule is an outstanding challenge and its solution will open new frontiers in …