This study of over 14,000 adults in two major health systems reveals striking racial and socioeconomic disparities in access to genetics evaluation and testing. Black individuals and those from disadv...

Precision medicine increasingly relies on genetic testing for individualized care, yet the practice patterns of genetic evaluation in adults remain under-characterized and few guidelines exist to info...

Adults in the ICU often don’t know about the genetic diagnoses related to their symptoms, DNA sequencing study shows

In ICU-admitted adults 18–40 years old, exome sequencing, a broad genetic test examining all protein-coding genes, reveals a diagnosis in 24.4% of patients and significant race-based disparities. This...

Our current understanding of neurofibromatosis type 1 (NF1) is based on patients ascertained through phenotype-first approaches, which estimate a low prevalence at 1 in 3,000. Here, the authors levera...

Interpreting the genomic and phenotypic consequences of copy-number variation (CNV) is essential to understanding the etiology of genetic disorders. Whereas deletion CNVs lead obviously to haploinsuff...