Resolving a Complex Neonatal Phenotype by Rapid Trio Whole-Genome Sequencing: A De Novo 11q14.3-q22.3 Deletion and a Splicing-Altering Synonymous ANK1 Variant
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Background: Neonates with complex and evolving phenotypes often lack sufficiently specific clinical features to guide targeted genetic testing. Rapid trio whole-genome sequencing (WGS) may provide comprehensive etiologic clarific... ...
