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

Bo YuanKatharina V SchulzeNurit Assia BatzirJefferson SinsonHongzheng DaiWenmiao ZhuFrancia BocanegraChin-To FongJimmy HolderJoanne NguyenChristian P SchaafYaping YangWeimin BiChristine EngChad ShawJames R LupskiPengfei Liu
Published in: Genome medicine (2022)
Our results demonstrate that genomic sequencing of personal genomes with NAHR deletions could dramatically improve allele and gene discovery and enhance clinical molecular diagnosis. Moreover, results suggest NAHR events could potentially enable human haploid genetic screens as an approach to experimental inquiry into disease biology.
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