Article

Identification of Pathogenic Structural Variants in Rare Disease Patients through Genome Sequencing

2019-05-15

Abstract excerpt

<h4>Purpose</h4> Clinical whole genome sequencing is becoming more common for determining the molecular diagnosis of rare disease. However, standard clinical practice often focuses on small variants such as single nucleotide variants and small insertions/deletions. This leaves a wide range of larger “structural variants” that are not commonly analyzed in patients. <h4>Methods</h4> We developed a pipeline for pro...

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Literature Corpus work: 9f2693c1-5315-5635-b8ea-07678ed60b5d
DOI: 10.1101/627661

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