PI: Chen Lu
Specializing in novel genetic and epigenetic research using specialized bioinformatics and statistical analyses, our lab is focusing on human health by integrating bioinformatics and experiments in genetics and epigenetics.
Alternativesplicing is a widespread post-transcriptional process in eukaryotic organisms,wherein multiple distinct transcripts/isoforms are produced from a single gene,often in a tissue- and developmental stage-specific manner. Alternative splicing also has an importantrole in disease, with 15% of disease-causing mutations located within splicesites and more than 20% of missense mutations lying within predicted splicingelements.
We haveexplored the roles of alternative splicing in cancers (Chen et al., HMG 2011)and haematopoietic stem cell differentiation (Chen et al., Science 2014). We also expanded to wider aspects of genomicsand epigenetics research, including genome wide association study of bloodtraits using whole genome sequencing (UK10K consortium Nature 2015) and theeffect of common sequence variation on the epigenome landscape (Chen et al.,Cell 2016).
In my faculty position in West China Second University Hospitaland State Key Laboratory of Biotherapy at Sichuan University, I am applyinghuman genetics and epigenetics to disease’s diagnosis and prediction.Particularly, to investigate the gene and splicing regulation in stem cells anddiseases, I am focusing on (a) gene and splicing regulation in hematopoieticstem cells. (b) Signatures of ex-x-pression, splicing and epigenetic marks in cancers; and (c) genetic variation in gene ex-x-pression and epigeneticlandscape in blood-related diseases.