Browsing Tag
Genetic variation
4 posts
Examining the role of common variants in rare neurodevelopmental conditions
Cohort descriptions and phenotypes DDD The aim of the DDD study is to find molecular diagnoses for families…
Deciphering the impact of genomic variation on function
Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA Jesse M. Engreitz, Benjamin C. Hitz, Anshul Kundaje, Andreas R.…
Genetic drivers and cellular selection of female mosaic X chromosome loss
Machiela, M. J. et al. Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome.…
Genomic data in the All of Us Research Program
The All of Us cohort All of Us aims to engage a longitudinal cohort of one million or…