A cross-disorder dosage sensitivity map of the human genome

By |2022-10-24T17:04:27-04:00September 23rd, 2022|Categories: Publication|Tags: , |

Large copy number variants (CNVs)—deletions or duplications of more than 100,000 DNA nucleotides—are collectively one of the strongest risk factors for abnormal neurodevelopment. However, interpreting CNVs in clinical genetic practice is challenging due to the lack of standardized resources for predicting the impact of CNVs on individual genes. By harmonizing and jointly analyzing genetic data [...]