The human reference genome is the most widely used resource in human genetics and is
due for a major update. Its current structure is a linear composite of merged haplotypes from …

Today, environmental pollution is a serious problem, and bioremediation can play an
important role in cleaning contaminated sites. Remediation strategies, such as chemical and …

Abstract The Ensembl Variant Effect Predictor is a powerful toolset for the analysis,
annotation, and prioritization of genomic variants in coding and non-coding regions. It …

Abstract Ensembl (www. ensembl. org) is a database and genome browser for enabling
research on vertebrate genomes. We import, analyse, curate and integrate a diverse …

Tumour heterogeneity in primary prostate cancer is a well-established phenomenon.
However, how the subclonal diversity of tumours changes during metastasis and …

Map** perturbed molecular circuits that underlie complex diseases remains a great
challenge. We developed a comprehensive resource of 394 cell type–and tissue-specific …

Data sharing anchors reproducible science, but expectations and best practices are often
nebulous. Communities of funders, researchers and publishers continue to grapple with …

The BRCA Challenge is a long-term data-sharing project initiated within the Global Alliance
for Genomics and Health (GA4GH) to aggregate BRCA1 and BRCA2 data to support highly …

Subcortical brain structures are integral to motion, consciousness, emotions and learning.
We identified common genetic variation related to the volumes of the nucleus accumbens …

The risk factors for nonalcoholic fatty liver disease (NAFLD) have not been clearly identified.
We conducted a Mendelian randomization (MR) study to explore this. Independent genetic …