In Mendelian inheritance patterns, you receive one version of a gene, called an allele, from each parent. These alleles can be dominant or recessive. Non-Mendelian genetics don’t completely follow ...

Over 1700 human protein-coding genes partly or completely share a very high sequence identity with other genomic regions 1. These paralogous regions originate from small- or large-scale duplication ...

Variant calling is hindered in segmental duplications by sequence homology. We developed Paraphase, a HiFi-based informatics method that resolves highly similar genes by phasing all haplotypes of ...