Alexej Abyzov

Early Career Tenure-track Researcher, Mayo Clinic

2 active projects

Detecting somatic CNAs in AoU (V7)

Genomic variants in an individual may be either inherited (i.e., transmitted through the germline) or generated by mutagenesis in post-zygotic cells. Widespread genomic mosaicism in somatic cells of phenotypically normal individuals is now well established. Mutations occur in each cell…

Scientific Questions Being Studied

Genomic variants in an individual may be either inherited (i.e., transmitted through the germline) or generated by mutagenesis in post-zygotic cells. Widespread genomic mosaicism in somatic cells of phenotypically normal individuals is now well established. Mutations occur in each cell during development and aging. This project is aimed at studying large structural rearrangements, called copy number alterations (CNA), in genomes of AoU participants. Discovered CNAs in AoU cohort will be compared to CNAs discovered in external cohorts of people with autism and their relatives.

Project Purpose(s)

  • Ancestry
  • Other Purpose (Fulfilling aims of the award R03 AG085705)

Scientific Approaches

We will use whole genome sequencing (WGS) data and personal genome polymorphisms inferred from WGS. The method to discover CNA was previously developed by us and tested in the frames of Brain Somatic Mosaicism Network (DOI: 10.1126/science.abm6222). The method was implemented in the software tool called CNVpytor (https://github.com/abyzovlab/CNVpytor).

Anticipated Findings

The result of the study will contribute to understanding the frequency and spectrum of somatic CNAs during life span in human populations . Results of the study may then be used by us or other researcher to associate somatic CNAs with various diseases, conditions, and early diagnosis of malignancies and age-associated diseases.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

Collaborators:

  • Zhiyv Niu - Early Career Tenure-track Researcher, Mayo Clinic

Detecting somatic copy number alterations in AoU participants

Genomic variants in an individual may be either inherited (i.e., transmitted through the germline) or generated by mutagenesis in post-zygotic cells. Widespread genomic mosaicism in somatic cells of phenotypically normal individuals is now well established. Mutations occur in each cell…

Scientific Questions Being Studied

Genomic variants in an individual may be either inherited (i.e., transmitted through the germline) or generated by mutagenesis in post-zygotic cells. Widespread genomic mosaicism in somatic cells of phenotypically normal individuals is now well established. Mutations occur in each cell during development and aging. This project is aimed at studying large structural rearrangements, called copy number alterations (CNA), in genomes of AoU participants. Discovered CNAs in AoU cohort will be compared to CNAs discovered in external cohorts of people with autism and their relatives.

Project Purpose(s)

  • Ancestry

Scientific Approaches

We will use whole genome sequencing (WGS) data and personal genome polymorphisms inferred from WGS. The method to discover CNA was previously developed by us and tested in the frames of Brain Somatic Mosaicism Network (DOI: 10.1126/science.abm6222). The method was implemented in the software tool called CNVpytor (https://github.com/abyzovlab/CNVpytor).

Anticipated Findings

The result of the study will contribute to understanding the frequency and spectrum of somatic CNAs during life span in human populations . Results of the study may then be used by us or other researcher to associate somatic CNAs with various diseases, conditions, and early diagnosis of malignancies and age-associated diseases.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

  • Alexej Abyzov - Early Career Tenure-track Researcher, Mayo Clinic

Collaborators:

  • Milovan Suvakov - Research Fellow, Mayo Clinic
1 - 2 of 2
<
>
Request a Review of this Research Project

You can request that the All of Us Resource Access Board (RAB) review a research purpose description if you have concerns that this research project may stigmatize All of Us participants or violate the Data User Code of Conduct in some other way. To request a review, you must fill in a form, which you can access by selecting ‘request a review’ below.