Elevated Leukodystrophy Incidence Predicted From Genomics Databases.

ABSTRACT:

Background

Leukodystrophies are genetic diseases affecting the white matter and leading to early death. Our objective was to determine leukodystrophy incidence, using genomics sequencing databases allele frequencies of disease-causing variants.

Methods

From 49 genes, representing the standardly defined group of leukodystrophies, we identified potential disease-causing variants from publications in the Human Genetic Mutation Database and from predictions in the Genome Aggregation Database. Allele frequencies were estimated from Genome Aggregation Database. Allele frequencies for each gene were summed to generate a super allele frequency and we used the Hardy-Weinberg equation to calculate overall expected live birth incidence associated with the gene in question.

Results</

SUBMITTER: Soderholm HE 

PROVIDER: S-EPMC7506144 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature