My Zoom Meeting with Erika on 8-22-25

PLEASE DO NOT SHARE INFORMATION ELSEWHERE

Meeting covered cohort composition, data strategy, IRB/ethics, funding considerations, a preliminary data plan, manuscript support, marketing/visibility, next steps, and communications. It also outlines proposed researcher roles. Acknowledged time/funding pressures: cohort management, sleep challenges, and limited group resources.

1) Cohort Composition & Data Strategy

·     Current sequencing numbers: 33 participants have purchased Whole Genome Sequencing (WGS) kits; 2 have uploaded external WGS → total 35 WGS. Two Whole Exome Sequencing (WES) are already uploaded.

·       Erika confirmed it is acceptable to mix WGS and WES in analysis (noting WES is less comprehensive/“spottier” than WGS).

·       Erika’s view: more data broadens what can be mined; you don’t have to use all data immediately.

·       2 children represented in cohort, discussion around coding for variables.

2) Publication & Expertise

·       Tracy is pursuing an ion-channel specialist (from Columbia) to strengthen mechanistic interpretation.

·       Erika is open to co-authorship using her Texas State University affiliation (not Sequencing.com) to avoid conflict of interest.

·       Adding channel-specific expertise should address questions about ion channels (including innate immune system channel interactions) and elevate the paper.

3) IRB & Ethics

·       IRB approval is best practice (not an absolute requirement).

·       Private companies can obtain IRB via paid committees; academic institutions (e.g., Texas State) already have IRBs, Erika will approach TSU.

·       To avoid conflict of interest, keep Sequencing.com activity separate from research: participants download their own data and opt-in by sharing it with Erika in her academic capacity.

5) Preliminary Data Plan

Two-step approach proposed by Erika:

       a) Rapid preliminary pass using Sequencing.com tools (Genome Explorer, Ultimate Compatibility files) and if necessary, consumer-genomics uploads (23andMe/Ancestry) onto the website, to identify shared variants across the cohort.

    b) Use preliminary signals to support funding applications and scope deeper analyses (e.g., GWAS, burden testing).

6) Manuscript Support

·       Tracy’s 60-page draft needs integration of 10 key references.

·       Erika volunteered to take a first pass at weaving those references into the manuscript to align literature with the emerging data strategy.

·       She is comfortable being listed as a co-author.

7) Immediate Next Steps

·       Tracy: Invite participants who already have genetic files to upload them onto Sequencing.com (free accounts acceptable).

·       Erika: Integrate the 10 references into the manuscript (post-travel), explore IRB options at Texas State, and sketch the preliminary data strategy.

·       Maintain separation between Sequencing.com platform use and academic research handling to avoid conflicts in publication and data management.

8) Communications (Eve / Sequencing.com)

·       Emphasize how Sequencing data is being used to advance the research.

·       It’s acceptable to mention Erika’s help in her official Sequencing.com coaching capacity (user guidance), not as a formal research analyst for Sequencing.com.

·       Highlight Tracy’s literature groundwork as the foundation for gene/variant selection.