Liu Y, Cheng J, Siejka-Zielinska P, Weldon C, Roberts H, Lopopolo M, Magri A, D’Arienzo V, Harris JM, McKeating JA, Song CX.
Genome Biology (2020) 54
We present long-read Tet-assisted pyridine borane sequencing (lrTAPS) for targeted base-resolution sequencing of DNA methylation and hydroxymethylation in regions up to 10 kb from nanogram-level input. Compatible with both Oxford Nanopore and PacBio Single-Molecule Real-Time (SMRT) sequencing, lrTAPS detects methylation with accuracy comparable to short-read Illumina sequencing but with long-range epigenetic phasing. We applied lrTAPS to sequence difficult-to-map regions in mouse embryonic stem cells and to identify distinct methylation events in the integrated hepatitis B virus genome.
A Multi-tissue Transcriptome Analysis of Human Metabolites Guides Interpretability of Associations Based on Multi-SNP Models for Gene Expression.
23 January 2020
Ndungu A, Payne A, Torres JM, van de Bunt M, McCarthy MI. American Journal of Human Genetics, (2020) pg 188-201 Abstract There is particular interest in transcriptome-wide association studies...
Advancing the Use of Mobile Technologies in Clinical Trials: Recommendations from the Clinical Trials Transformation Initiative.
6 October 2019
Coran P, Goldsack JC, Grandinetti CA, Bakker JP, Bolognese M, Dorsey ER, Vasisht K, Amdur A, Dell C, Helfgott J, Kirchoff M, Miller CJ, Narayan A, Patel D, Peterson B, Ramirez E, Schiller D,...
Dating genomic variants and shared ancestry in population-scale sequencing data.
17 January 2020
Albers PK, McVean G. PLOS Biology (2020) 1-26 Abstract The origin and fate of new mutations within species is the fundamental process underlying evolution. However, while much attention has been...