Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank
Abstract The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private–public
partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that …
partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that …
Regulatory genomic circuitry of human disease loci by integrative epigenomics
Annotating the molecular basis of human disease remains an unsolved challenge, as 93%
of disease loci are non-coding and gene-regulatory annotations are highly incomplete …
of disease loci are non-coding and gene-regulatory annotations are highly incomplete …
Single-molecule genome-wide mutation profiles of cell-free DNA for non-invasive detection of cancer
Somatic mutations are a hallmark of tumorigenesis and may be useful for non-invasive
diagnosis of cancer. We analyzed whole-genome sequencing data from 2,511 individuals in …
diagnosis of cancer. We analyzed whole-genome sequencing data from 2,511 individuals in …
A human cell atlas of fetal chromatin accessibility
INTRODUCTION In recent years, the single-cell genomics field has made incredible
progress toward disentangling the cellular heterogeneity of human tissues. However, the …
progress toward disentangling the cellular heterogeneity of human tissues. However, the …
Artificial intelligence in cancer target identification and drug discovery
Artificial intelligence is an advanced method to identify novel anticancer targets and discover
novel drugs from biology networks because the networks can effectively preserve and …
novel drugs from biology networks because the networks can effectively preserve and …
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis
We investigated type 2 diabetes (T2D) genetic susceptibility via multi-ancestry meta-analysis
of 228,499 cases and 1,178,783 controls in the Million Veteran Program (MVP), DIAMANTE …
of 228,499 cases and 1,178,783 controls in the Million Veteran Program (MVP), DIAMANTE …
The GTEx Consortium atlas of genetic regulatory effects across human tissues
GTEx Consortium - Science, 2020 - science.org
The Genotype-Tissue Expression (GTEx) project was established to characterize genetic
effects on the transcriptome across human tissues and to link these regulatory mechanisms …
effects on the transcriptome across human tissues and to link these regulatory mechanisms …
Interpreting type 1 diabetes risk with genetics and single-cell epigenomics
Genetic risk variants that have been identified in genome-wide association studies of
complex diseases are primarily non-coding. Translating these risk variants into mechanistic …
complex diseases are primarily non-coding. Translating these risk variants into mechanistic …
Accurate and efficient detection of gene fusions from RNA sequencing data
S Uhrig, J Ellermann, T Walther, P Burkhardt… - Genome …, 2021 - genome.cshlp.org
The identification of gene fusions from RNA sequencing data is a routine task in cancer
research and precision oncology. However, despite the availability of many computational …
research and precision oncology. However, despite the availability of many computational …
Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification
Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …