Precision medicine strives for highly individualized treatments for disease under the notion
that each individual's unique genetic makeup and environmental exposures imprints upon …

There are many current and evolving tools to assist clinicians in their daily work of
phenotyping. In medicine, the term 'phenotype'is usually taken to mean some deviation from …

Rapid methodological advances in statistical and computational genomics have enabled
researchers to better identify and interpret both rare and common variants responsible for …

The increase in sequencing capacity, reduction in costs, and national and international
coordinated efforts have led to the widespread introduction of next-generation sequencing …

Molecular genetic testing informs diagnosis, prognosis, and risk assessment for patients and
their family members. Recent advances in low‐cost, high‐throughput DNA sequencing and …

Next-generation sequencing technology has rapidly accelerated the discovery of genetic
variants of interest in individuals with rare diseases. However, showing that these variants …

DECIPHER (D atabas e of Genomi c Var i ation and P henotype in H umans Using E nsembl
R esources) shares candidate diagnostic variants and phenotypic data from patients with …

Recent genetic discoveries and related developments in genomic techniques have led to
the commercialization of novel diagnostic platforms for studying disease or gauging …

We explore the process of going from genome discovery to evaluation of medical impact and
discuss emerging challenges faced by the scientific community. The need to confront these …

Determining the exact genetic causes for a patient and providing definite molecular
diagnoses are core elements of precision medicine. Individualized patient care is often …