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Rare Recessive Disease Insights Found in Individual Genomes

A Baylor College of Medicine-led team outlines a recurrent deletion-based approach for teasing out the genes and processes behind autosomal recessive conditions for a paper in Genome Medicine. By mapping and quantifying recurrent genomic deletions that stem from non-allelic homologous recombination (NAHR) in individual genomes, the researchers predicted such deletions across populations and came up with a related score for gauging the recessive disease influences of NAHR-related deletions. "We have demonstrated through computational modeling that NAHR-mediated recurrent genomic deletions contribute to a major fraction of burdens for recessive disease traits," they write, noting that "systematic sequencing of individuals carrying NAHR-mediated recurrent genomic deletions is a promising genomic strategy for discovery and characterization of autosomal recessive disease trait genes and alleles."