See the following for a description of three papers representing the work of our lab. A comprehensive list of publications is below.
SouthSeq is a National Institutes of Health (NIH) funded clinical research study that aims to use genome sequencing to identify genetic variants that may contribute to the conditions of sick newborns, with the ultimate goal of providing diagnoses for these families. The study enrolled 640 babies representing racial and ethnic minorities as well as those from rural, medically underserved areas. This manuscript presents the results from a completed analysis of the first 367 babies enrolled.
Bowling, KM, Thompson, ML, Finnila, CR, et al. Genome sequencing as a first-line diagnostic test for hospitalized infants, Genetics in Medicine, 2021, ISSN 1098-3600, https://doi.org/10.1016/j.gim.2021.11.020.
This manuscript describes the results from sequencing 371 individuals with developmental delay or intellectual disability as part of the Clinical Sequencing Exploratory Research (CSER) consortium. 100 affected individuals were found to harbor pathogenic or likely pathogenic variants. This study supports the value of large-scale sequencing for clinical and research progress related to pediatric neurological disease.
Bowling, K.M., Thompson, M.L., Amaral, M.D. et al. Genomic diagnosis for children with intellectual disability and/or developmental delay. Genome Med 9, 43 (2017). https://doi.org/10.1186/s13073-017-0433-1.
This manuscript describes a widely used, powerful genomic annotation tool called Combined Annotation-Dependent Depletion (CADD). It can score the deleteriousness of single nucleotide variants as well as insertion and deletion variants in the human genome. Visit the CADD website here.
Kircher, M., Witten, D., Jain, P. et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46, 310–315 (2014). https://doi.org/10.1038/ng.2892