Article

Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

2018-05-21

Abstract excerpt

For a proportion of individuals judged clinically to have a recessive Mendelian disease, only one pathogenic variant can be found from clinical whole exome sequencing (WES), posing a challenge to genetic diagnosis and genetic counseling. Here we describe a case study, where WES identified only one pathogenic variant for an individual suspected to have glycogen storage disease type Ia (GSD-Ia), which is an autosoma...

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Literature Corpus work: f774a506-9e39-5743-a11e-4698e54a6da8
DOI: 10.1101/326496

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