Neonatal respiratory distress syndrome (RDS) is the most common cause of pulmonary death and morbidity in infants <1 year of age in the United States; approximately 5,400 infants die annually with this diagnosis as a primary or secondary cause. Understanding the underlying genetic regulatory mechanisms that lead to RDS is crucial for improving infant outcomes and reducing health care costs associated with RDS. Dr. Cole and his colleagues were the first to establish an unambiguous genotype-phenotype correlation between homozygous or compound heterozygous loss of function mutations in the surfactant protein B gene (SFTPB) and RDS. This correlation makes SFTPB a biologically relevant candidate gene to assess genetic contribution to risk of RDS. In view of the low frequency of the most common loss of function allele (121ins2 - 1/1,000 individuals), Dr. Cole has required large cohorts to identify rare (minor allele frequency >0.1%) SFTPB variants and patterns of variants (haplotypes) associated with RDS in unselected population-based and case-control cohorts. Complete genomic resolution and large cohort size are only feasible thanks to the high throughput sequencing services of the Genome Sequencing Center at the Washington University School of Medicine. Advances in gene sequencing technologies at the GSC have dramatically reduced SFTPB sequencing costs. The informatic resources and automated, high throughput mutational profiling pipeline provide sequencing, data quality, and data analysis resources required for large genomic data sets.