Deletion of long non-coding RNA linked to rare neurodevelopmental disorder
When a gene produces too much protein, it can have devastating consequences on brain development and function. Patients with an ...
Tag: Exome Sequencing
Exome sequencing unravels complex genetic diagnoses in growth disorders
In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital ...
Neoantigen discovery sheds light on cancer immunogenicity
In a recent article published in Nature Communications, researchers reported a proteogenomic approach to investigate fresh solid melanoma tumor material. The approach ...
PacBio's Revio long-read sequencing system to help Bioscientia solve complex genetic cases
PacBio, a leading developer of high-quality, highly accurate sequencing solutions, today announced that Bioscientia is using its Revio long-read sequencing ...
MGI and South Australian Genomics Centre Introduce DNBSEQ-T7 to Supercharge Genomics Research in Australia
Brisbane, Australia 27th April 2023 - MGI and South Australian Genomics Centre (SAGC) are proud to announce their joint efforts to advance genomics research in Australia by ...
Scientists study OAS–RNase L errors and COVID-19-associated multisystem inflammatory syndrome in children
In a recent study published in Science, researchers assessed the inborn abnormalities of 2′-5′-oligoadenylate synthetase (OAS)-ribonuclease L (RNASEL) noted in ...
Researchers uncover genomic characteristics of breast cancers associated with PTEN hamartoma tumor syndrome
Cleveland Clinic researchers have uncovered genomic characteristics of breast cancers associated with PTEN hamartoma tumor syndrome (PHTS) that differentiate them ...
Mapping the Types and Traits of Immune Cells
On this interview, Information-Medical speaks to 2 researchers every discussing their respective research which have contributed to the Human Cell ...
