NGS for Sequence Variants.
Recent technological advances in next-generation sequencing (NGS) provide unprecedented power to sequence personal genomes, characterize genomic landscapes, and detect a large number of sequence variants. The discovery of disease-causing variants in patients' genomes has dramatically changed our perspective on precision medicine. This chapter provides an overview of sequence variant detection and analysis in NGS study. We outline the general methods for identifying different types of sequence variants from NGS data. We summarize the common approaches for analyzing and visualizing casual variants associated with complex diseases on precision medicine informatics.
Department of Biology, Howard University, Washington, DC, 20059, USA. shaolei.teng@howard.edu.
Shaolei
S
Teng
D019295:Computational Biology / Q000379:methods*; D014644:Genetic Variation; D015894:Genome, Human; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D020407:Internet; D057285:Precision Medicine; D011786:Quality Control; D017422:Sequence Analysis, DNA / Q000706:statistics & numerical data; D012984:Software
Association testing; Next-generation sequencing; Precision medicine informatics; Sequence alignment; Sequence variants; Variant calling; Visualization