The centenary of insulin discovery represents an important opportunity to transform diabetes
from a fatal diagnosis into a medically manageable chronic condition. Insulin is a key …

Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

Missing heritability in genome-wide association studies defines a major problem in genetic
analyses of complex biological traits,. The solution to this problem is to identify all causal …

After two decades of improvements, the current human reference genome (GRCh38) is the
most accurate and complete vertebrate genome ever produced. However, no single …

Omics techniques generate large, multidimensional data that are amenable to analysis by
new informatics approaches alongside conventional statistical methods. Systems theories …

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects social
interaction and communication, with restricted interests, activity and behaviors. ASD is highly …

The recent advances in sequencing technologies enable the assembly of individual
genomes to the quality of the reference genome. How to integrate multiple genomes from …

Genomes represent the starting point of genetic studies. Since the discovery of DNA
structure, scientists have devoted great efforts to determine their sequence in an exact way …

We apply integrative approaches to expression quantitative loci (eQTLs) from 44 tissues
from the Genotype-Tissue Expression project and genome-wide association study data …

Genome-wide association studies (GWAS) have identified thousands of genetic variants
linked to the risk of human disease. However, GWAS have so far remained largely …