The past decade of cancer research has been marked by a growing appreciation of the role
of immunity in cancer. Mutations in the tumour genome can cause tumours to express …

Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …

Public health newborn screening (NBS) programs provide population-scale ascertainment
of rare, treatable conditions that require urgent intervention. Tandem mass spectrometry …

Several new genomics technologies have become available that offer long-read sequencing
or long-range mapping with higher throughput and higher resolution analysis than ever …

The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile
secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism …

Clinical genetics has an important role in the healthcare system to provide a definitive
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …

Patients with a diverse spectrum of rare genetic disorders can present with inflammatory
bowel disease (monogenic IBD). Patients with these disorders often develop symptoms …

Importance Whole-exome sequencing (WES) has the potential to reveal tumor and germline
mutations of clinical relevance, but the diagnostic yield for pediatric patients with solid …

Given the global burden of heart failure, strategies to understand the underlying cause or to
provide prognostic information are critical to reducing the morbidity and mortality associated …

Oncotator is a tool for annotating genomic point mutations and short nucleotide
insertions/deletions (indels) with variant‐and gene‐centric information relevant to cancer …