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Updated: May 11, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Targeted next-generation resequencing of f5 gene identifies novel multiple variants pattern in severe hereditary
Piotr K Janicki1, Sonia Vaida, Hamid A B Al-Mondhiry
1Laboratory of Perioperative Genomics, Department of Anesthesiology, Penn State University College of Medicine, MS Hershey Medical Center, H187, 500 University Dr, Hershey, PA 17033, USA.
Abstract:
The present study investigated the genetic defects underlying severe Factor V deficiency in a 26-year-old Columbian (South America) female and her immediate family (both parents and newborn child) by next generation sequencing (NGS) of the entire F5 gene locus. Five mutations in the coding sequence of F5, including three missense single-nucleotide variants (R2102H, R513K, D107H) and two synonymous variants (A135A , S184S), were identified and confirmed by the Sanger sequencing in the investigated proband (homozygote for all detected mutations), her parents, and her newborn child (all heterozygotic carriers for identified mutations). Each of the three missense variants was previously associated with separate phenotypes, including Factor V deficiency (R2102H), thrombosis (R513K) and frequent miscarriages (D107H). In addition, at least 75 additional single-nucleotide variants (including six novels) were identified in untranslated region of F5.
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Next-generation Sequencing
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Single Nucleotide Polymorphisms-SNPs

