Jiahua Qu
Project Personnel, University of California, San Francisco
2 active projects
female_with_miscarriage
Scientific Questions Being Studied
To compare with our previous study on pre-natal gene screening on variants.
We have selected lists of pre-natal gene variants and want to verify using data on All ofUs.
Project Purpose(s)
- Ancestry
Scientific Approaches
Use vcf data on All of Us.
Analyze the variants and their frequency in population.
Compare with our previous studies based on data from gnomAD andClinVar.
Anticipated Findings
We anticipated that the results from data on All of Us are consistent with those from gnomAD and ClinVar.
We want to extend our conclusion in a larger cohort like All of Us to prove the reliability of our study.
Demographic Categories of Interest
This study will not center on underrepresented populations.
Data Set Used
Controlled Tier
Leiomyoma-GWAS
Scientific Questions Being Studied
The leiomyoma is a serious female disease, but its genetic and molecular regulation mechanisms remain elusive, especially in under-represented minorities. Therefore, we want to explore the All of Us database to perform a GWAS study to better understand the genetics of leiomyoma.
Project Purpose(s)
- Ancestry
Scientific Approaches
We plan to download demographics data for all females diagnosed with uterine leiomyoma and their WGS data in Hail Matrix Table. After combination of the phenotype and genomic data, we will perform GWAS.
Anticipated Findings
We want to first summarize and observe the phenotype data, and then find important site associated with leiomyoma significantly for future studies in the filed.
Demographic Categories of Interest
This study will not center on underrepresented populations.
Data Set Used
Controlled TierRequest a Review of this Research Project
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