Weighted burden analysis in 200,000 exome-sequenced subjects characterises rare variant effects on BMI
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Obesity"
DOI: 10.1038/s41366-021-01053-4
Abstract: A number of genes have been identified in which rare variants can cause obesity. Here we analyse a sample of exome sequenced subjects from UK Biobank using BMI as a phenotype with the aims of… read more here.
Keywords: weighted burden; sequenced subjects; exome sequenced; burden analysis ... See more keywords
Mutation Burden Analysis of Six Common Mental Disorders in African Americans by Whole Genome Sequencing.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac129
Abstract: Mental disorders present a global health concern, with limited treatment options. In today's medical practice, medications such as antidepressants are prescribed not only for depression, but also for conditions such as anxiety and attention deficit… read more here.
Keywords: mental disorders; african americans; mutation burden; burden analysis ... See more keywords
Rare CYLD Variants in Chinese Patients With Amyotrophic Lateral Sclerosis
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.740052
Abstract: Background: CYLD Lysine 63 Deubiquitinase gene (CYLD) was recently identified to be a novel causative gene for frontal temporal dementia (FTD)-amyotrophic lateral sclerosis (ALS). In the current study, we aimed to (1) systematically screen the… read more here.
Keywords: lateral sclerosis; cyld; burden analysis; rare variants ... See more keywords