Phenotypes & Genotypes SIG Seminar

Includes a Live Web Event on 03/27/2025 at 12:00 PM (EDT)

  • Register
    • Regular Member - Free!
    • Early Career Member - Free!
    • Resident/Clinical Fellow Member - Free!
    • Postdoctoral Fellow Member - Free!
    • Graduate Student Member - Free!
    • Undergraduate Student Member - Free!
    • Emeritus Member - Free!
    • Life Member - Free!
    • Nonmember - Free!
    • Trainee Member - Free!

    Continue

In this seminar, Nara Sobreira, PhD, MD will present tools used to prioritize causative variants in the analysis of coding and non-coding variants when analyzing genomic data. The tools include PhenoDB, GeneMatcher, and VariantMatcher. PhenoDB is an accessible, freely available, web-based platform that allows users to store, share, analyze, and interpret their patients' phenotypes and variants from ES/GS data using a wide range of annotations and AI tools that facilitate the connection of causative genes to the phenotypes being investigated. GeneMatcher is accessible to all stakeholders as a web-based tool developed to connect individuals (researchers, clinicians, health care providers, and patients) around the globe with an interest in the same gene(s), variant(s), or phenotype(s). Finally, VariantMatcher was developed to enable public sharing of variant-level data and phenotypic information from individuals sequenced as part of multiple disease gene discovery projects. Dr. Nara Sobreira will explore the GA4GH tools used to connect these databases to others worldwide as part of the Matchmaker Exchange project.

 

Overview of Presentation:

  • Introduce PhenoDB and outline a typical PhenoDB analysis pipeline.
  • Describe GeneMatcher and highlight the ways it has facilitated disease gene discovery.
  • Discuss VariantMatcher and the benefits of connecting databases that share variant-level and phenotypic information.

Nara Lygia de Macena Sobreira, MD, PhD

Associate Professor

Johns Hopkins University

Nara Sobreira, MD, PhD, is an associate professor at the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University School of Medicine. Her area of expertise is rare Mendelian phenotypes, analysis of next-generation sequencing, and functional testing of candidate causative variants. She earned her M.D. at the University of Pernambuco in Brazil. She finished her Ph.D. in Human Genetics at Johns Hopkins followed by a one-year postdoc also at Johns Hopkins School of Medicine. She completed residencies in clinical genetics at both Universidade Federal de Sao Paulo and Johns Hopkins. Her main clinical and research focus is on identifying the genetic bases of rare phenotypes, mainly, phenotypes associated with cartilage tumors and vascular anomalies, and on understanding the physiopathology of these phenotypes to identify pharmacological strategies to treat them. She has worked extensively on developing strategies to better analyze the variants identified by next-generation sequencing and on novel strategies for data sharing. She is one of the creators of GeneMatcher, VariantMatcher, and one of the co-founders of the Matchmaker Exchange, all intended to share next-generation sequencing data.

Lord Jephthah Joojo Gowans, PhD (Moderator)

Principal Investigator

Kwame Nkrumah University of Science and Technology, Kumasi, Ghana

Dr. Lord Jephthah Joojo Gowans is a faculty member at Kwame Nkrumah University of Science and Technology (KNUST), Kumasi, Ghana. He conceived, initiated, and executed the first-ever genetics and genomics research on orofacial clefts (OFCs) and craniosynostosis among Ghanaians. His group remains the leader in craniofacial research among continental Africans. He established the Human Genetics and Genomics (HuGENE) Laboratory at KNUST, where he serves as the Director/PI. Dr Gowans has served as the Contact Principal Investigator (PI) on several National Institutes of Health (NIH, USA) primary grants to KNUST, as well as Site PI for many NIH subawards. For instance, in 2019, he was awarded a five-year Emerging Global Leader Award/Grant by NIDCR/FIC at NIH. In June 2023, he was awarded the IADR/Smile Train Cleft Research award. He is a member of several professional bodies, including ASHG. Dr Gowans’ PhD was a split-site training between KNUST and the University of Iowa, Iowa, USA.

Key:

Complete
Failed
Available
Locked
Phenotypes & Genotypes SIG Seminar
03/27/2025 at 12:00 PM (EDT)  |  60 minutes
03/27/2025 at 12:00 PM (EDT)  |  60 minutes Dr. Nara Sobreira will present her recent work as part of this Phenotypes & Genotypes SIG Seminar.
You must register to access.