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Fig. 4 | Genome Medicine

Fig. 4

From: Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits

Fig. 4

A “segmental haploid genomics” approach for characterization of new disease genes or alleles for autosomal recessive conditions. The illustration above depicts dynamics of disease alleles in an autosomal recessive condition whose collective carrier burden is contributed by a recurrent genomic deletion (red area) and a few single-nucleotide variants (SNVs, gray area). Individuals affected with biallelic pathogenic changes frequently carry the deletion as one of the two alleles, because the deletion arises recurrently in multiple lineages (indicated by the red lightning bolt arrow). SNV disease alleles for recessive genes tend to be passed on from ancestral generations and may drift away without being noticed if they do not converge with another disease allele (SNV3). However, they may emerge to medical attention frequently in families with high degree of autozygosity, as illustrated in generations 3 and 4 for SNV2

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