Article

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

2021-02-22

Abstract excerpt

In medical genetics, discovery and characterization of disease trait contributory genes and alleles depends on genetic reasoning, study design, and patient ascertainment; we now suggest a segmental haploid genetics approach to enhance gene discovery and molecular diagnostics. We present novel genomic insights to enhance discovery in the challenging context of autosomal recessive (AR) traits and bi-allelic variatio...

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Literature Corpus work: ea775278-7b07-5137-aa8f-fc32a615fe0a
DOI: 10.1101/2021.02.16.21251842

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