ascopubs.org

Exome Sequencing Identifies Carriers of the Autosomal Dominant Cancer Predisposition Disorders Beyond Current Practice Guideline Recommendations

Disparate Rates of Germline Variants in Cancer Predisposition Genes in African American/Black Compared With Non-Hispanic White Individuals Between 2015 and 2022 The funding sources did not play a role ...
Nature

Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts

After manual review and curation, 27 candidate variants met criteria for pathogenic or likely pathogenic variants, from 21 different cyst samples, and were flagged for further statistical analysis ...
Nature

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders

Autosomal recessive (AR) disorders pose a significant burden for public health. However, despite their clinical importance, epidemiology and molecular genetics of many AR diseases remain poorly ...
Healthline

What Is Autosomal Recessive Cystic Fibrosis, and Who Does It Affect?

Cystic fibrosis (CF) is an autosomal recessive condition. This means that a person will have CF only if they receive the affected gene from both parents at conception. Share on Pinterest Dalibor ...