genetic disease – Cytognomix

We’re giving a demonstration and a poster presentation of our new GA4GH-compliant web-based Beacon (https://validsplicemut.cytognomix.com) at the 2019 American College of Medical Genetics and Genomics annual conference this week.

Here are the details:

Pan-Cancer Repository of Validated Natural and Cryptic mRNA Splicing MutationsCategory: “Laboratory genetics and genomics”, Abstract Poster Number: 754 (link to abstract)

Where: Exhibit hall, Washington Convention Center, ACMG Clinical Genetics Meeting in Seattle, Washington

When: April 2 – 6, 2019; Poster presentation time: Friday, 4/5 from 10:30am-12:00pm

An e-poster is available on the CytoGnomix website (direct link to poster). The work has been published in F1000Research (link).

If you’d like to meet with Dr. Rogan, please contact him at info@cytognomix.com

This Beacon resource was created using the MutationForecaster system.

Links to the latest CytoGnomix products:

Applications and consulting in Geostatistical Epidemiology

Monitoring and discriminating infectious disease hotspots from high disease burden regions, eg. for COVID-19:

Zenodo repository: Geostatistical Analysis of SARS-CoV-2 Positive Cases in the United States

Defence Canada IDEaS project: Locating emerging COVID19 hotspots in Ontario after community transmission by time-correlated, geospatial analysis

Addressing large scale radiation incidents and accidents:

Article in PLOS One: Meeting radiation dosimetry capacity requirements of population-scale exposures …. (Funded by High performance computing consortium: SOSCIP and CytoGnomix)

How to: Protocol for Geostatistical Determination of Radiation Dosimetry Maps of Population-Scale Exposures

Large scale Radiation Biodosimetry

Capacity of supercomputer version of Automated Dicentric Chromosome Identifier and Dose Estimator (ADCI) software: Automated Cytogenetic Biodosimetry at Population-Scale and Radiation, Radiation, 2021 (link to published article).

Scalable, democratized access to ADCI:

Overview of Cloud version- ADCI_Online

Presentation to the International Atomic Energy Agency (CRP E35010)

Gene Expression Signatures for Radiation Biodosimetry

Mucaki, E.J., Shirley, B.C. and Rogan, P.K., 2021. Improved radiation expression profiling in blood by sequential application of sensitive and specific gene signatures. International Journal of Radiation Biology, doi.org/10.1080/09553002.2021.1998709 Link to pdf: Improved radiation expression profiling…

Zhao, J.Z., Mucaki, E.J. and Rogan, P.K., 2018. Predicting ionizing radiation exposure using biochemically-inspired genomic machine learning. F1000Research, 7(233), p.233. Link to open access article: https://f1000research.com/articles/7-233

Large Scale Repository of Cancer Splicing Mutations

Pan-cancer repository of validated natural and cryptic mRNA splicing mutations (a major public resource of mRNA splicing mutations validated according to multiple lines of evidence of abnormal gene expression. )

Article in F1000Research: Pan-Cancer repository of …..

Presentation at the 2019 American College of Medical Genetics Annual Meeting:

Pan-cancer repository of validated natural and cryptic mRNA.ePoster