Tag: cgds

CGDS Trainee Presents at the UAB Cystic Fibrosis Research Center Symposium

On October 4, 2023, Tarun Mamidi, a doctoral candidate in CGDS, showcased his research at the UAB Cystic Fibrosis Research Center Symposium, focusing on using neural networks to identify modifier variants in Cystic Fibrosis (CF).

His work aims to improve our understanding of how these variants can change how CF affects individuals and their response to treatments. By applying advanced neural network techniques, Tarun’s research offers potential pathways for more precise and effective therapeutic strategies.

Congratulations to Tarun!

CGDS Attends ACMG 2023 in Salt Lake City, UT

Left to right: Dr. Manavalan Gajapathy, Dr. Gurpreet Kaur, Tarun Mamidi, Dr. Liz Worthey

Tarun Mamidi gave a platform presentation on applying his thesis work to identify pathogenic variants causing Neurofibromatosis disease. Mana and Gurpreet also gave poster presentations on their projects. Here are the abstracts submitted to the conference –

  1. Presented by Mana – P464: ROH pipeline enables analysis of regions of homozygosity using next generation sequencing data
  2. Presented by Gurpreet – P492: Identification of molecular modifiers of disease in a group of systematically phenotyped patients with cystic fibrosis
  3. Presented by Tarun – O48: DITTO4NF: In silico classification and prioritization of likely pathogenic variants for NF1 using explainable machine learning

Gurpreet was awarded Office of Postdoctoral Education (OPE) Travel Award for ACMG2023 to present her work on Cystic Fibrosis

Tarun giving his platform presentation at ACMG on DITTO4NF.
Tarun Mamidi
Mana, Gurpreet and Tarun
Gurpreet presenting her poster on Cystic Fibrosis

CGDS ClinVar Submissions Update

The Center for Computational Genomics and Data Science (CGDS) at the University of Alabama recently submitted updates to ClinVar, highlighting its ongoing contributions to genomic research and variant interpretation.

GeneSubmissionsLast Updated
ENO31Jun 9, 2020
EPHX11Dec 18, 2019
HFE1Dec 18, 2019
LOC1087836451Dec 18, 2019
MBL21Dec 18, 2019
PLG1Dec 18, 2019
SERPINA11Dec 18, 2019

More details about the submission are here.