Designs for massively parallel sequencing approaches to identify causal mutations in human immune disorders

Yu Zhang; Helen C Su

doi:10.1007/978-1-62703-290-2_14

Designs for massively parallel sequencing approaches to identify causal mutations in human immune disorders

Methods Mol Biol. 2013:979:175-87. doi: 10.1007/978-1-62703-290-2_14.

Authors

Yu Zhang¹, Helen C Su

Affiliation

¹ Human Immunological Diseases Unit, Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

PMID: 23397396
DOI: 10.1007/978-1-62703-290-2_14

Abstract

Massively parallel sequencing technologies provide new opportunities to discover causal variants and -narrow down candidate genes responsible for human Mendelian disorders. Such information can in turn provide new insights into understanding the basic science behind, as well as improving diagnosis and treatment for, these disorders. In this chapter, we review experimental design and data analysis for sequencing studies of human immune disorders. We discuss optimal experimental designs for sample selection and sequencing approaches, as well as key aspects of data analysis such as filtering and prioritization of identified variants.

Publication types

Research Support, N.I.H., Extramural
Review

MeSH terms

Animals
DNA Mutational Analysis / methods*
High-Throughput Nucleotide Sequencing / methods*
Humans
Immune System Diseases / genetics*
Inheritance Patterns
Mutation*
Statistics as Topic