High-throughput Sequencing
Publications
Combining newborn metabolic and DNA analysis for second- tier testing of methylmalonic acidemia
Purpose: Improved second-tier tools are needed to reduce false- positive outcomes in newborn screening (NBS) for inborn metabolic …
Germline Mutation Detection in Next Generation Sequencing Data and TP53 Mutation Carrier Probability Estimation for Li-Fraumeni Syndrome
Next generation sequencing technology has been widely used in genomic analysis, but its application has been compromised by the missing …
FamSeq: a variant calling program for family-based sequencing data using graphics processing units
Various algorithms have been developed for variant calling using next-generation sequencing data, and various methods have been applied …
Rare variant detection using family-based sequencing analysis
Next-generation sequencing is revolutionizing genomic analysis, but this analysis can be compromised by high rates of missing true …