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VERSION:2.0
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X-WR-CALNAME:[IGH] Rising Stars In Genomic Health Virtual Seminar Series fe
 at. Tiffany Amariuta\, PhD\, UC San Diego
X-WR-TIMEZONE:Eastern Time (US & Canada)
BEGIN:VEVENT
DTSTAMP:20260519T062701Z
UID:tag:localist.com\,2008:EventInstance_52081582053715
DTSTART:20260217T170000Z
DTEND:20260217T180000Z
DESCRIPTION:"Mapping Susceptibility to Complex Disease with Genome-wide Ass
 ociation Studies"\n\nAbstract:\n\nGenome-wide association studies (GWAS) h
 ave identified hundreds of thousands of genomic loci where germline geneti
 c variation is correlated with human disease or complex traits. 90% of GWA
 S variants reside in noncoding sequences that are predominantly gene regul
 atory regions\, but it is challenging to identify the target genes of thes
 e regulatory regions. Knowing which genetic variants cause disease is ofte
 n not sufficient for clinical intervention\, whereas identifying disease g
 enes can accelerate the development of therapeutics. Therefore\, much effo
 rt has been dedicated to variant-to-function research to identify importan
 t disease genes regulated by noncoding genetic variation via analysis of t
 ranscriptomic and epigenetic data. The statistical association between gen
 otype and gene expression via expression quantitative trait loci (eQTL) st
 udies can provide valuable insight into the mechanism of disease-associate
 d variants. For example\, a transcriptome-wide association study\, a multi
 variate type of eQTL analysis\, found MAPK3 to be associated with schizoph
 renia and neurodevelopmental phenotypes via a key role in neuronal prolife
 ration.\n\nInnovative experimental and statistical approaches are needed t
 o discover new eQTL\, which is necessary for the functional characterizati
 on of GWAS variants. Progress in variant-to-gene mapping is currently limi
 ted by lack of ancestral diversity in gene expression cohorts\, low power 
 to detect distal effects on gene expression\, and difficulty in studying r
 are cell types. Our central hypothesis is that undetected disease-critical
  genetic variation is concentrated in ancestry-specific\, distal\, and cel
 l-type-specific regulatory elements\, offering new opportunities to implic
 ate disease-critical genes. Recently\, the integration of genetic data acr
 oss different populations has improved polygenic risk score accuracy and f
 ine-mapping of causal variants\, high-dimensional feature selection algori
 thms have predicted complex disease\, and heritability estimation methods 
 have advanced\, but none have not been explored for genetic analysis of ge
 ne expression. In this presentation I will discuss our ongoing work to ove
 rcome limitations of variant-to-gene mapping to reveal disease-critical ge
 nes regulated by GWAS variants.\n\nDate: Tuesday\, February 17\, 2026\nTim
 e: 12 - 1pm ET\nZoom Registration Link\nZoom Meeting ID: 982 9078 7173\n\n
 Zoom meeting info will be sent after registration.
LOCATION:
SUMMARY:[IGH] Rising Stars In Genomic Health Virtual Seminar Series feat. T
 iffany Amariuta\, PhD\, UC San Diego
URL;VALUE=URI:https://events.mountsinaihealth.org/event/igh-rising-stars-in
 -genomic-health-virtual-seminar-series-feat-tiffany-amariuta-phd-uc-san-di
 ego
CATEGORIES:Academic
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