Areas of Interest
Our research group primarily focuses on analyzing whole-genome sequence data to identify genetic variation (primarily structural variation) and examine their potential functional impact on disease phenotypes. We are particularly interested in analyzing complex regions of the genome that are not easily resolved through modern sequencing approaches and may exhibit interesting mechanistic origins. We are also interested in the large-scale integration of genomic, expression, methylation and proteomic data sets and the application of whole-genome sequence analysis in clinical diagnostics.
Published Articles or Reviews
- Peter Ebert, Peter A Audano, Qihui Zhu et al, (2021), Haplotype-resolved diverse human genomes and integrated analysis of structural variation
Science, 2021 Apr 2;372(6537) - Yifan Wang, Taejeong Bae, Jeremy Thorpe, Maxwell A Sherman et al (2021), Comprehensive identification of somatic nucleotide variants in human brain tissue, Genome Biol,2021 Mar 29;22(1):92.
- Pinatti LM, Gu W, Wang Y, Elhossiny A, Bhangale AD, Brummel CV, Carey TE, Mills RE, Brenner JC (2021) A novel approach to identify and assemble human papillomavirus- host genomic integration events in cancer. Cancer, 127(19), 3531-3540.
- McDonald TL, Zhou W, Castro CP, Mumm C, Switzenberg JA, Mills RE, Boyle AP (2021) Cas9 targeted enrichment of mobile elements using nanopore sequencing. Nat Commun, 12(1), 3586.