Polygenic risk scores have shown great promise in predicting complex disease risk and will
become more accurate as training sample sizes increase. The standard approach for …

A map of 191 single-nucleotide polymorphism (SNPs) was built across a 5-Mb segment
from chromosome 13q34 that has been genetically linked to schizophrenia. DNA from 213 …

Regulatory and coding variants are known to be enriched with associations identified by
genome-wide association studies (GWASs) of complex disease, but their contributions to trait …

Mitochondrial DNA (mtDNA)–depletion syndromes (MDS; OMIM 251880) are phenotypically
heterogeneous, autosomal-recessive disorders characterized by tissue-specific reduction in …

Schizophrenia and bipolar disorder are two distinct diagnoses that share symptomology.
Understanding the genetic factors contributing to the shared and disorder-specific symptoms …

There is genetic predisposition associated with ⩾10% of all cancer of the prostate (CaP). By
means of a genomewide search on a selection of 47 French and German families, …

Administration of specific drugs may occasionally induce acquired long QT syndrome (aLQTS),
a disorder that predisposes to ventricular arrhythmias, typically of the torsade de pointes (…

Thiamine-responsive megaloblastic anaemia (TRMA), also known as Rogers syndrome, is
an early onset, autosomal recessive disorder defined by the occurrence of megaloblastic …

Thiamine-responsive megaloblastic anaemia with diabetes and deafness 1 (TRMA; MIM
249270) is an autosomal recessive disease thought to be due to a defect in thiamine (vitamin B1…

Congenital hypotrichosis associated with juvenile macular dystrophy (HJMD; MIM601553) is
an autosomal recessive disorder of unknown etiology, characterized by hair loss heralding …