Identification of structural variants leading to non-reference gene structure
Document Type
Article
Publication Date
Summer 2023
Keywords
JGM
JAX Location
In: Student Reports, Summer 2023, The Jackson Laboratory
Sponsor
Kwondo Kim, Ph.D.
Abstract
The GRCh38 reference genome and its annotation have been gradually improved for two decades. However, it has limitations in measuring gene expressions mainly due to a lack of diversity derived from structural variants (SVs). Here, we aim to identify SVs that cause non- reference gene structure using high-quality haplotype-resolved genomes and corresponding RNA-seq data from a diverse sample group to address the limitation. This analysis allowed us to identify 202 SVs that potentially change the gene structure of the reference genome in protein- coding exons. Our findings exemplify that SVs indeed contribute to a more diverse gene structure, suggesting that diversity is needed in the annotation as well as in the genome to better represent the landscape of gene expression across human populations.
Recommended Citation
Koo, Grace, "Identification of structural variants leading to non-reference gene structure" (2023). Summer and Academic Year Student Reports. 2733.
https://mouseion.jax.org/strp/2733