Integrative omics for health and disease
Advances in omics technologies—such as genomics, transcriptomics, proteomics and
metabolomics—have begun to enable personalized medicine at an extraordinarily detailed …
metabolomics—have begun to enable personalized medicine at an extraordinarily detailed …
The post-GWAS era: from association to function
During the past 12 years, genome-wide association studies (GWASs) have uncovered
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …
A general framework for estimating the relative pathogenicity of human genetic variants
Current methods for annotating and interpreting human genetic variation tend to exploit a
single information type (for example, conservation) and/or are restricted in scope (for …
single information type (for example, conservation) and/or are restricted in scope (for …
[HTML][HTML] An integrated encyclopedia of DNA elements in the human genome
ENCODE Project Consortium - Nature, 2012 - ncbi.nlm.nih.gov
The human genome encodes the blueprint of life, but the function of the vast majority of its
nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) …
nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) …
Annotation of functional variation in personal genomes using RegulomeDB
As the sequencing of healthy and disease genomes becomes more commonplace, detailed
annotation provides interpretation for individual variation responsible for normal and …
annotation provides interpretation for individual variation responsible for normal and …
Engineering triangular carbon quantum dots with unprecedented narrow bandwidth emission for multicolored LEDs
F Yuan, T Yuan, L Sui, Z Wang, Z ** array, we analyzed 14,498 subjects with multiple
sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 …
sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 …
The selection and function of cell type-specific enhancers
The human body contains several hundred cell types, all of which share the same genome.
In metazoans, much of the regulatory code that drives cell type-specific gene expression is …
In metazoans, much of the regulatory code that drives cell type-specific gene expression is …