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

In medical genetics, discovery and characterization of disease trait contributory genes and alleles depends on genetic reasoning, study design, and patient ascertainment; we suggest a segmental haploid genetics approach to enhance gene discovery and molecular diagnostics.

Type

Journal article

Citation

Yuan, Bo, Schulze, Katharina V., Assia Batzir, Nurit, et al.. "Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits." Genome Medicine, 14, (2022) Springer Nature: https://doi.org/10.1186/s13073-022-01113-y.

Published Version

https://doi.org/10.1186/s13073-022-01113-y

Rights

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