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Welcome to GeNotes

Quick, concise information to help healthcare professionals make the right genomic decisions at each stage of a clinical pathway

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  • In the Clinic

    Focused on the point of patient care, these short scenarios look at when to consider genomic testing and what you need to do.

  • Knowledge Hub

    Extend your learning with this encyclopaedia of resources, designed to support your understanding of genomics in medicine

Knowledge hub - Latest

Non-invasive prenatal testing (NIPT)

Non-invasive prenatal testing is a way of screening for chromosomal anomalies in a fetus using a sample of blood from a pregnant woman.

  • Technologies

Karyotype

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.

  • Technologies

RNA sequencing (RNA-seq)

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.

  • Technologies

Short tandem repeat (STR) testing

Short tandem repeat testing provides accurate sizing of repeat expansion regions (short sequences that are repeated many times in functional parts of the genome).

  • Technologies

Short-read sequencing

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.

  • Technologies
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