The vision of the American Society of Human Genetics (ASHG) is that people everywhere
will realize the benefits of human genetics and genomics. Implicit in that vision is the …

The African continent is regarded as the cradle of modern humans and African genomes
contain more genetic variation than those from any other continent, yet only a fraction of the …

Importance While congenital malformations and genetic diseases are a leading cause of
early infant death, to our knowledge, the contribution of single-gene disorders in this group is …

To embrace the prospects of accurately diagnosing thousands of monogenic conditions,
predicting disease risks for complex traits or diseases, tailoring treatment to individuals’ …

Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000–3,000,
is characterized by a highly variable clinical presentation. To date, only two …

BACKGROUND Transcriptome sequencing (RNA-seq) improves diagnostic rates in
individuals with suspected Mendelian conditions to varying degrees, primarily by directing the …

One major challenge encountered with interpreting human genetic variants is the limited
understanding of the functional impact of genetic alterations on biological processes. …

Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-disciplinary,
and collaborative in unprecedented ways. Exact disease recognition, an element of …

The underlying genetic etiology of rhabdomyolysis remains elusive in a significant fraction of
individuals presenting with recurrent metabolic crises and muscle weakness. Using exome …

Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF
(COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals …