Variant Views

Primary reference: Pairo-Castineira, et al. Nature. Dec. 11, 2020. Featured genes: OAS1, OAS2, OAS3, TYK2, DPP9, IFNAR2. Since lung inflammation drives mortality in critical illness caused by Covid-19, host genetic variants associated with this...

Primary Reference: Sadler et al. AJHG. Dec. 21, 2020. Genes: CHD8 and CHD3. Chiari I malformation (CM1) describes displacement of the cerebellum through the foramen magnum into the spinal canal, and it is one of the most common pediatric...

Primary reference: Jin et al. BMC Ed Genomics, Oct. 27, 2020 Genes: HFM1, MCM8, MCM9, ADAMTSL1, and FER1L6. In most women, ovarian function typically begins to decrease around age 50, eventually leading to menopause, during which the incidence of...