The expanding diagnostic toolbox for rare genetic diseases
KD Kernohan, KM Boycott - Nature Reviews Genetics, 2024 - nature.com
Genomic technologies, such as targeted, exome and short-read genome sequencing
approaches, have revolutionized the care of patients with rare genetic diseases. However …
approaches, have revolutionized the care of patients with rare genetic diseases. However …
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare
Australian Genomics is a national collaborative partnership of more than 100 organizations
piloting a whole-of-system approach to integrating genomics into healthcare, based on …
piloting a whole-of-system approach to integrating genomics into healthcare, based on …
A call to action to scale up research and clinical genomic data sharing
Genomic data from millions of individuals have been generated worldwide to drive discovery
and clinical impact in precision medicine. Lowering the barriers to using these data …
and clinical impact in precision medicine. Lowering the barriers to using these data …
Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26
Hereditary platelet disorders (HPDs) are a group of blood disorders with variable severity
and clinical impact. Although phenotypically there is much overlap, known genetic causes …
and clinical impact. Although phenotypically there is much overlap, known genetic causes …
Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition
JR Zerella, CC Homan, P Arts, X Lin, SJ Spinelli… - Blood, 2024 - ashpublications.org
The genomics era has facilitated the discovery of new genes that predispose individuals to
bone marrow failure (BMF) and hematological malignancy (HM). We report the discovery of …
bone marrow failure (BMF) and hematological malignancy (HM). We report the discovery of …
A guide to gene–disease relationships in nephrology
The use of next-generation sequencing technologies such as exome and genome
sequencing in research and clinical care has transformed our understanding of the …
sequencing in research and clinical care has transformed our understanding of the …
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres
Breast cancer remains a significant global health challenge. In Australia, the adoption of
publicly-funded multigene panel testing for eligible cancer patients has increased …
publicly-funded multigene panel testing for eligible cancer patients has increased …
Clinically significant changes in genes and variants associated with epilepsy over time: implications for re-analysis
Despite the significant advances in understanding the genetic architecture of epilepsy, many
patients do not receive a molecular diagnosis after genomic testing. Re-analysing existing …
patients do not receive a molecular diagnosis after genomic testing. Re-analysing existing …
Research needs for birth defect prevention and control in China in the genomic screening era
Y An, Y Shen, Y Ma, H Wang - bmj, 2024 - bmj.com
Research needs for birth defect prevention and control in China in the genomic screening era
Page 1 the bmj | BMJ 2024;386:e078637 | doi: 10.1136/bmj-2023-078637 12 ProMoting …
Page 1 the bmj | BMJ 2024;386:e078637 | doi: 10.1136/bmj-2023-078637 12 ProMoting …
SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population
JM Moreno-Cabrera, L Feliubadaló, M Pineda… - Database, 2024 - academic.oup.com
Accurate classification of genetic variants is crucial for clinical decision-making in hereditary
cancer. In Spain, genetic diagnostic laboratories have traditionally approached this task …
cancer. In Spain, genetic diagnostic laboratories have traditionally approached this task …