Genomics is a relatively new scientific discipline, having DNA sequencing as its core
technology. As technology has improved the cost and scale of genome characterization over …

Late-onset Alzheimer's disease is a prevalent age-related polygenic disease that accounts
for 50–70% of dementia cases. Currently, only a fraction of the genetic variants underlying …

Genome-wide association studies have uncovered hundreds of common genetic variants
involved in complex diseases. However, for most complex diseases, these common genetic …

Importance Osteosarcoma, the most common malignant bone tumor in children and
adolescents, occurs in a high number of cancer predisposition syndromes that are defined …

By analyzing the exomes of 12,332 unrelated Swedish individuals, including 4,877
individuals affected with schizophrenia, in ways informed by exome sequences from 45,376 …

Although most cervical human papillomavirus type 16 (HPV16) infections become
undetectable within 1–2 years, persistent HPV16 causes half of all cervical cancers. We …

Background Humoral immune responses to infectious agents or vaccination vary
substantially among individuals, and many of the factors responsible for this variability …

Importance Use of thiopurines may be limited by myelosuppression. TPMTpharmacogenetic
testing identifies only 25% of at-risk patients of European ancestry. Among patients of East …

Background The accumulation of mitochondrial DNA (mtDNA) mutations, and the reduction
of mtDNA copy number, both disrupt mitochondrial energetics, and may contribute to aging …

With advances in whole-genome sequencing (WGS) technology, more advanced statistical
methods for testing genetic association with rare variants are being developed. Methods in …