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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

January 2024

Metagenomic Characterisation of the Gut Microbiome and Effect of Complementary Feeding on Bifidobacterium spp. in Australian Infants

Complementary feeding induces dramatic ecological shifts in the infant gut microbiota toward more diverse compositions and functional metabolic capacities, with potential implications for immune and metabolic health. The aim of this study was to examine whether the age at which solid foods are introduced differentially affects the microbiota in predominantly breastfed infants compared with predominantly formula-fed infants. 

Published research Breastfeeding Early Childhood Development Nutrition Nutrition in Early Life ORIGINS Computational Biology Subsite: ORIGINS Project Clinical Epigenetics Immunology and Breast Feeding
January 2024

An evaluation of GPT models for phenotype concept recognition

Clinical deep phenotyping and phenotype annotation play a critical role in both the diagnosis of patients with rare disorders as well as in building computationally-tractable knowledge in the rare disorders field.

Published research Computational Biology
January 2024

CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered. 

Autism Spectrum Published research Computational Biology Translational Genetics Child disability Rare diseases Genetics
December 2023

Study Protocol for a Stepped-Wedge Cluster (Nested) Randomized Controlled Trial of Antenatal Colostrum Expression (ACE) Instruction in First-Time Mothers: The ACE Study

Although many mothers initiate breastfeeding, supplementation with human-milk substitutes (formula) during the birth hospitalization is common and has been associated with early breastfeeding cessation. Colostrum hand expressed in the last few weeks before birth, known as antenatal colostrum expression (ACE), can be used instead of human-milk substitutes. However, evidence is lacking on the efficacy of ACE on breastfeeding outcomes and in non-diabetic mothers. 

Diabetes (Type 1) Published research Breastfeeding ORIGINS Computational Biology Subsite: ORIGINS Project Immunology and Breast Feeding Maternal health