Field Application Scientist
BIOGRAPHY
JUN 02, 2022 8:00 AM PDT
Human vs. AI: Why manual curation is irreplaceable in clinical genomics
Speaker
Event Date & Time
Date: June 02, 2022
Time: 8:00am (PDT), 11:00am (EDT), 5:00pm (CEST)
Abstract
Artificial intelligence (AI) is currently a buzzword across almost all scientific disciplines and has the potential to revolutionize diagnostic approaches in inherited diseases. But when it comes to variant curation, is AI capable of replacing human expertise? A new study by Stanford University compares data quality from their Automatic VAriant evidence DAtabase (AVADA) to the Human Gene Mutation Database (HGMD).
The results show that expert curation by variant scientists is irreplaceable in the field of clinical genomics, with HGMD recovering nearly 40% more disease-associated mutations than the AI-powered AVADA.
In this webinar, we demonstrate the depth and breadth of HGMD through a series of use-cases where the manually curated database outperforms AI solutions, including how HGMD:
- Provides genomic coordinates and Human Genome Variation Society (HGVS) nomenclature for variants as well as citations and comments for key publications
- Indicates where a variant is described in a paper or supplemental text
- Enables database entries to be visualized via tools, such as IGV and UCSC Genome Browser
- Simplifies literature review with legacy/alternative variant naming schemes
- Supports CNV interpretation and “reverse” look-up by phenotype
In addition, all webinar attendees will receive a complimentary, 5-day trial of HGMD Professional.
Webinars will be available for unlimited on-demand viewing after live event.
You May Also Like
DEC 10, 2024 | 9:00 AM
To-date, proteomic analysis has been severely limited in scale and resolution. Analyzing protein samples using an intact, single-molecule approach holds th...
MAY 29, 2024 | 8:00 AM
A-TEEM spectroscopy is an emerging technique with huge potential for QC laboratories in the pharmaceutical and biopharmaceutical industries. We present a set of tools for A-TEEM spectroscopy...
OCT 02, 2024 | 7:30 AM
De novo gene synthesis and protein expression are established technologies that can give access to nearly any target DNA or protein sequence, allowing for engineering of biologics. In this p...
MAY 29, 2024 | 9:00 AM
C.E. CREDITS
Histology laboratorians in the research world move fast, but those who perform cryosectioning know that these particular tissues require lighting speed and precision. Cryosectioning is the a...
JUN 19, 2024 | 8:30 AM
Join us for an illuminating webinar as we delve into the realm of open automation with Inpeco, the global leader in Total Laboratory Automation. Discover how their groundbreaking s...
Loading Comments...