Single cell long read whole genome sequencing reveals somatic transposon activity in human brain

Abstract

The advent of single cell DNA sequencing revealed astonishing dynamics of genomic variability, but failed at characterizing smaller to mid size variants that on the germline level have a profound impact. In this work we discover novel dynamics in three brains utilizing single cell long-read sequencing. This provides key insights into the dynamic of the genomes of individual cells and further highlights brain specific activity of transposable elements.

Competing Interest Statement

FJS receives research support from PacBio, Illumina and Oxford Nanopore.

Funding Statement

The study is funded in part by the joint efforts of The Michael J. Fox Foundation for Parkinsons Research (MJFF) and the Aligning Science Across Parkinsons (ASAP) initiative. MJFF administers the grant [Grant ID 000430] on behalf of ASAP and itself. This study is in part supported by NIH (UG3NS132105).

Author Declarations

I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.

Yes

The details of the IRB/oversight body that provided approval or exemption for the research described are given below:

All donors had given informed consent for the use of their brain in research and ethics approval was provided tissue bank by the UK National Research Ethics Service (07/MRE09/72). All ethical regulations relevant to human research participants were followed.

I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals.

Yes

I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance).

Yes

I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable.

Yes

留言 (0)

沒有登入
gif