Article

Clinical diagnosis of single-gene disorders and chromosomal abnormalities based on BGISEQ-500 platform

2019-06-23

Abstract excerpt

Most of the variation in the human genome is a single nucleotide variation (SNV) based on a single base or small fragment insertions and deletions and genomic copy number variation (CNV). Both types of mutations are involved in many human diseases. Such diseases often have complex clinical symptoms and difficult clinical diagnosis, so an effective detection method is needed to help clinical diagnosis and prevent b...

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Literature Corpus work: 92c88653-1cbb-549f-8088-d9d5a516b658
DOI: 10.1101/675991

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