New resources

KCCG has launched resources for clinicians and researchers to get hands-on experience with genome filtering, get started with clinical genomics research, refresh their genetics knowledge and search the scientific literature more powerfully.
18 September 2018

Seav-Ed

Seav-Ed provides health professionals with hands-on experience with genomic data and results. Using KCCG’s genome filtering tool, Seave, users can make diagnoses in four case studies using real genomic data.

Seav-Ed was developed by Krista Recsei and Bronwyn Terrill (Education and Communication program) in partnership with Dr Velimir Gayevskiy, Dr Kishore Kumar and Dr Lisa Ewans (Translational Genome Informatics program) and Dr Georgina Hollway (Genome.One).

 

Clinical Genomics Researcher Resource

ClinicalGenomicsResearch.pngKCCG, the NSW Health Centre for Genetics Education and Bioplatforms Australia launched Australia’s first online clinical genomics resource for clinician researchers.

This resource, which was funded by the NSW Ministry of Health Office of Health and Medical Research, aims to assist those who are starting clinical genomics research in their area of expertise. It covers topics of ethics, participant interactions, the multidisciplinary team, project and experimental design, and the challenges associated with different genomic technologies and genomic data.

Bronwyn Terrill and Krista Recsei in KCCG’s (Education and Communication program) contributed to its development.

 

 

Genetics Refresher

GeneticsRefresher.pngKCCG released a Genetics Refresher to equip general practitioners to discuss genetic and genomic testing with patients.

This is a foundation resource for an upcoming ThinkGP genomics education module for general practitioners to be released in August “Navigating Genomic Testing”.

This module was designed by Amanda Chau and Bronwyn Terrill (Education and Communication program).

 

 

Hippo

Hippo.pngKCCG also launched the Hippo automated language-processing tool to supercharge searching the vast scientific literature, developed by Ahmed Muaz (Phenomics program) in collaboration with the Monarch Initiative and the Human Phenotype Ontology.

Hippo helps clinicians and researchers overcome the difficulty of searching for genes and medical terms that have multiple names, or are implicated in multiple disorders. This boosts understanding of genomic disease, helps identify connected genes and phenotypes, and improves ability to make diagnoses.

This tool has already processed 27 million articles across the scientific literature, 58 million unique paper-entity associations and has built in annotations that cover 9,800 phenotypes, 12,500 diseases, 6,000 drugs and 12,000 genes.