Quick, concise information to help healthcare professionals make the right genomic decisions at each stage of a clinical pathway
Focused on the point of patient care, these short scenarios look at when to consider genomic testing and what you need to do.
Extend your learning with this encyclopaedia of resources, designed to support your understanding of genomics in medicine
Non-invasive prenatal testing is a way of screening for chromosomal anomalies in a fetus using a sample of blood from a pregnant woman.
A karyotype is a visual representation of the number and structure of all the chromosomes and provides a low-resolution genome-wide screen for chromosomal variants.
RNA sequencing can be used to detect and quantify coding and non-coding RNAs, for studies of differential gene expression and studies of alternate splicing.
Short tandem repeat testing provides accurate sizing of repeat expansion regions (short sequences that are repeated many times in functional parts of the genome).
Short-read sequencing is currently the most commonly used form of next-generation sequencing (NGS) and has a wide range of diagnostic applications. In these types of sequencing, the genome is broken into small fragments (usually 50 to 300 bases) before being sequenced.