Jiahua Qu

Project Personnel, University of California, San Francisco

3 active projects

female_with_miscarriage

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.

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

Research Team

Owner:

  • Jiahua Qu - Project Personnel, University of California, San Francisco

miscarriage and infertility genomes

Our lab focus on the reproduction system and want to study the deep mechanisms underlying the miscarriage and infertility to promote reproductive health. Owing to the advantage of the All of Us database, we will also analyze in different populations,…

Scientific Questions Being Studied

Our lab focus on the reproduction system and want to study the deep mechanisms underlying the miscarriage and infertility to promote reproductive health. Owing to the advantage of the All of Us database, we will also analyze in different populations, especially including populations not studied well previously.

Project Purpose(s)

  • Disease Focused Research (miscarriage and infertility)
  • Ancestry

Scientific Approaches

We plan to use the genomic data in the All of Us database.
We also want to integrate datasets we had obtained and lists of genes we collected to study specific sites.
We want to extract the VCF file and look into the variants by utilizing genomic study tools such as python, Hail and R.

Anticipated Findings

We plan to discover important variants associated with miscarriage and infertility, especially those on some genes we are interested in.
Our findings will reveal the mechanism of miscarriage and infertility and contribute to the treatment of those disorders.

Demographic Categories of Interest

  • Sex at Birth

Data Set Used

Controlled Tier

Research Team

Owner:

  • Jiahua Qu - Project Personnel, University of California, San Francisco

Leiomyoma-GWAS

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…

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 Tier

Research Team

Owner:

  • Jiahua Qu - Project Personnel, University of California, San Francisco
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