Work over the past 25 years has resulted in the identification of genes responsible for~ 50%
of the estimated 7,000 rare monogenic diseases, and it is predicted that most of the …

The rise of technologies that simultaneously measure thousands of data points represents
the heart of systems biology. These technologies have had a huge impact on the discovery …

Background Quantitative proteomics is an indispensable tool in life science research.
However, there is a lack of reference materials for evaluating the reproducibility of label-free …

Technological advances have greatly increased the availability of human genomic
sequencing. However, the capacity to analyze genomic data in a clinically meaningful way …

Background & Aims Predicting survival in decompensated cirrhosis (DC) is important in
decision making for liver transplantation and resource allocation. We investigated whether …

The Global Globin Network (GGN) is a project-wide initiative of the Human Variome/Global
Variome Project (HVP) focusing on haemoglobinopathies to build the capacity for genomic …

Understanding the role genes and genetic variants play in clinical treatment response
continues to be an active area of research with the goal of common clinical use. This goal …

随着高通量测序等现代分析技术的不断进步, 探索生命体内在机理与外在表征的关系特别是生物
表型组的研究愈发深入. 而对基因, 环境和表型关联研究的精准诉求, 使得生物表型组的标准化变 …

Genome sequencing has the potential for stratified cancer treatment and improved
diagnostics for rare disorders. However, sequencing needs to be utilised in risk stratification …

The completion of the human genome, the most fundamental example of big data in science
and medicine, is the remarkable product of multidisciplinary collaboration and is regarded …