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

ABSTRACT:

Background

For a proportion of individuals judged clinically to have a recessive Mendelian disease, only one heterozygous pathogenic variant can be found from clinical whole exome sequencing (WES), posing a challenge to genetic diagnosis and genetic counseling. One possible reason is the limited ability to detect disease causal structural variants (SVs) from short reads sequencing technologies. Long reads sequencing can produce longer reads (typically 1000 bp or longer), therefore offering greatly improved ability to detect SVs that may be missed by short-read sequencing.

Results

Here we describe a case study, where WES identified only one heterozygous pathogenic variant for an individual suspected to have glycogen storage disease type Ia (GSD-Ia), which is an autosomal rece

SUBMITTER: Miao H 

PROVIDER: S-EPMC6162922 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature