CGDS Trainee Presents at 2023 GBS Symposium

Tarun Mamidi presenting at the 2023 UAB GBS Symposium

Tarun Mamidi, a doctoral trainee in the Genetics, Genomics, and Bioinformatics theme, delivered an impressive oral presentation titled about identifying cystic fibrosis variants using his tool, DITTO, at the 2023 UAB GBS Symposium.

His presentation highlighted the development of DITTO, a variant prioritization tool designed to identify modifier variants in rare diseases by integrating whole-genome sequencing data and machine learning models.

Congratulations to Tarun for being selected for an oral presentation and for his outstanding contribution to genome interpretation research!

CGDS Moves Locations!

The entrance to the new CGDS lab/work space.

In May 2023, CGDS moved out of Children’s Hospital and to a new location in the 912 Building on the south side of UAB’s Campus. The UAB-Biological Data Science Core (U-BDS) is joining us in the same suite! We are excited about the new location and are planning to host several training sessions, seminars, and events in the new space.

Please feel free to stop by and check out the new space. If you have any questions about the new location, email Kate Daughtry at ked2012@uab.edu.

https://www.uab.edu/map/?912-building

CGDS Trainee Receives Inclusive Campus Commitment Award

CGDS trainee, Shaurita Hutchins, received the Inclusive Campus Commitment Award in April at UAB’s Student Excellence Awards.

The award recognizes a student who embodies UAB Inclusive Campus Commitment by ensuring every member of the UAB community is treated with dignity and worth without any bias. This person will have made an active effort “to build an inclusive UAB.”

Shaurita also won the Campus Impact Award along with the Informatics Club for helping plan Hackin’ Omics 2022, which CGDS helped to plan along with CGDS trainee, Tarun Mamidi, as the hackathon’s co-chair.

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 Wins 3 Awards Worth $7.5k at Hack4NF

In late 2022, CGDS, in collaboration with Dr. Deeann Wallis lab, participated in a hackathon organized by the Children’s Tumor Foundation to tackle challenges with Neurofibromatosis disease. Here’s the presentation from the hackathon to learn more about the project.

In response to the ground-breaking work, Hack4NF organizers awarded three prestigious awards to our team.

  1. Winning team for Challenge-II: Devising in silico strategies to prioritize likely pathogenic NF1 germline variants.

2. Awarded Incubation award to work with the foundation to further develop methods for practical use in a clinical setting.

3. Third award for best overall use of the Hack4NF data platform.

CGDS at UAB Cancer Retreat

In October 2022, the O’Neal Comprehensive Cancer Center at the University of Alabama at Birmingham (UAB) held its highly anticipated annual Research Retreat at Regions Field. This event brought together researchers, medical professionals, and trainees to share the latest advancements in cancer research. Among the many projects presented was a groundbreaking study on Pediatric Thyroid Cancer, presented as a poster by Dr. Gurpreet Kaur, a post-doctoral trainee at the Center for Genomic Data Sciences (CGDS).

Dr. Kaur’s research project aimed to shed light on the molecular mechanisms underlying the disease. As a post-doctoral trainee at the CGDS, she utilized cutting-edge genomic technologies and bioinformatics tools to analyze tumor samples from pediatric patients with thyroid cancer. Her poster allowed her to visually convey the key aspects of her research, including the objectives, methodology, findings, and potential implications. Attendees had the opportunity to engage with Dr. Kaur, ask questions, and gain a deeper understanding of her work.

Dr. Gurpreet Kaur presenting her poster on Pediatric Thyroid cancer project

CGDS Trainees Attend the 2022 CCTS Translational Training Symposium

CGDS trainees Shaurita Hutchins, Brandon Wilik, and Tarun Mamidi attended and presented at the 2022 CCTS Translational Training Symposium in Mobile, Alabama. Both Mamidi and Hutchins received the CCTS Scientific Excellence Award to support travel to the symposium starting on September 14th.

Shaurita, Brandon, and Tarun (left to right) on the final day.
Shaurita presenting a poster on pulmonary arterial hypertension.
Tarun presenting his variant pathogenicity tool called DITTO.

All trainees presented posters at the conference and were able to gain valuable knowledge on networking, utilizing social media as scientists, navigating relationships with mentors, and writing aims for their researchers.

CGDS at ISMB 2022 Madison, WI

Dr. Manavalan Gajapathy, Dr. Liz Worthey, and Tarun Mamidi attended the Intelligent Systems for Molecular Biology (ISMB) conference in July 2022.

Manavalan Gajapathy, Elizabeth Worthey and Tarun Mamidi at ISMB 2022 (left to right)

Mana and Tarun both presented posters on their current projects.

Additionally, members of CDGS were able to network with others at the conference as well as spend time with collaborators in Dr. Brittany Lasseigne’s lab.

CGDS representing at ACMG 2022

From left to right – Donna Brown, Shaurita Hutchins, Tarun Mamidi, James Scherer, Angelina Uno-Antonison, Manavalan Gajapathy, Deeptha Srirangam

Several members of CGDS (Center for Computational Genomics and Data Science) attended annual ACMG (American College of Medical Genetics) conference held in Nashville, TN. This is the first in-person conference for people at CGDS since the pandemic.

Dr. Manavalan Gajapathy presented a poster titled “QuaC: Implementing Quality Control Best Practices for Genome Sequencing and Exome Sequencing Data”. Please use the below link to download the poster.

quac_acmgDownload