Resources

Phenotypic expression and clinical outcomes in a South Asian PRKAG2 cardiomyopathy cohort

Scientific Reports, volume 10, Article number: 20610 (2020)

The PRKAG2 syndrome is a rare autosomal dominant phenocopy of sarcomeric hypertrophic cardiomyopathy (HCM), characterized by ventricular pre-excitation, progressive conduction system disease and left ventricular hypertrophy. This study describes the phenotype, genotype and clinical outcomes of a South-Asian PRKAG2 cardiomyopathy cohort over a 7-year period.

  https://www.nature.com/articles/s41598-020-77124-9

OphthatomeTM: an integrated knowledgebase of ophthalmic diseases for translating vision research into the clinic

BMC Ophthalmology, volume 20, Article number: 442 (2020)

Medical big data analytics has revolutionized the human healthcare system by introducing processes that facilitate rationale clinical decision making, predictive or prognostic modelling of the disease progression and management, disease surveillance, overall impact on public health and research. Although, the electronic medical records (EMR) system is the digital storehouse of rich medical data of a large patient cohort collected over many years, the data lack sufficient structure to be of clinical value for applying deep learning methods and advanced analytics to improve disease management at an individual patient level or for the discipline in general. Ophthatome™ captures data contained in retrospective electronic medical records between September 2012 and January 2018 to facilitate translational vision research through a knowledgebase of ophthalmic diseases.

  https://bmcophthalmol.biomedcentral.com/articles/10.1186/s12886-020-01705-5

Immunodominant T-cell epitopes from the SARS-CoV-2 spike antigen reveal robust pre-existing T-cell immunity in unexposed individuals

bioRxiv, November 05, 2020

The COVID-19 pandemic has revealed a range of disease phenotypes in infected patients with asymptomatic, mild or severe clinical outcomes, but the mechanisms that determine such variable outcomes remain unresolved. In this study, we identified immunodominant CD8 T-cell epitopes in the RBD and the non-RBD domain of the spike antigen using a novel TCR-binding algorithm.

  https://www.biorxiv.org/content/10.1101/2020.11.03.367375v1

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study

BMC Medical Genetics, volume 21, Article number: 216 (2020)

Determining the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS).

  https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-020-01153-4
Considering Genomic Research?
*
 
*
*
 


2020 © MedGenome • All Rights Reserved