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Published in science

Transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cells

published in nature

An atlas of active enhancers across human cell types and tissues

published in nature

A promoter-level mammalian expression atlas

published in nature

An integrated encyclopedia of DNA elements in the human genome

published in nature

Landscape of transcription in human cells

May 2019

Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L

Published research Computational Biology
January 2019

C1 CAGE detects transcription start sites and enhancer activity at single-cell resolution.

We introduce C1 CAGE, a method for the detection of transcript 5'-ends with an original sample multiplexing strategy in the C1TM microfluidic system

Published research Computational Biology
December 2018

Integration of genetics and miRNA-target gene network identified disease biology implicated in tissue specificity

Our result highlighted that miRNA-target gene network contributes to human disease genetics in a cell type-specific manner

Published research Computational Biology
December 2018

Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults

Epigenetic changes at the GFI1 were linked to smoking exposure in-utero/in-adulthood and robustly associated with cardio-metabolic risk factors

Published research Computational Biology