Citations 13
Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example
Aronson, Samuel , Babb, Lawrence , Ames, Darren C., Gibbs, Richard A. , Connelly, John, Marsolo, Keith , Hartzler, Andrea L. , Liang, Wayne H. , Ralston, James D. , Devine, Emily Beth , Murphy, Shawn N. , Freimuth, Robert R. , Rasmussen, Luke V. , Peterson, Josh F. , Robinson, Jamie R. , Wiley, Ken, Taylor, Casey Overby , Group, eMERGE Network EHRI Working, Caraballo, Pedro J. , Babb, Lawrence , Rasmussen, Luke V , Freimuth, Robert R , Venner, Eric , Weng, Chunhua , Williams, Marc S , Chute, Christopher G. , Kullo, Iftikhar J. , Wehbe, Firas , Group, eMERGE Network EHRI Working, Peterson, Josh F
Journal of the American Medical Informatics Association | April 19, 2018 | Volume: 25 | Issue: 10 | Pages: 1375-1381
AbstractThe eMERGE Network is establishing methods for electronic transmittal of patient genetic test results from laboratories to healthcare providers across organizational boundaries. We surveyed the capabilities and needs of different network participants, established a common transfer format, and implemented transfer mechanisms based on this format. The interfaces we created are examples of the connectivity that must be instantiated before electronic genetic and genomic clinical decision support can be effectively built at the point of care. This work serves as a case example for both standards bodies and other organizations working to build the infrastructure required to provide better electronic clinical decision support for clinicians.
Heterozygous variants inACTL6A, encoding a component of the BAF complex, are associated with intellectual disability
Marom, Ronit , Jain, Mahim , Burrage, Lindsay C. , Song, I-Wen , Graham, Brett H. , Brown, Chester , Stevens, Servi J.C. , Stegmann, Alexander P.A. , Gunter, Andrew T., Kaplan, Julie, Gavrilova, Ralitza H. , Shinawi, Marwan , Bae, Yangjin , Tran, Alyssa A., Chen, Yuqing , Lu, James T. , Gibbs, Richard A. , Eng, Christine M. , Yang, Yaping , Rousseau, Justine , Vries, Bert B.A. de , Campeau, Philippe M. , Lee, Brendan , Rosenfeld, Jill A. , Lu, James T. , Campeau, Philippe M , Stevens, Servi J C , de Vries, Bert B A , Burrage, Lindsay C , Shinawi, Marwan
Human Mutation | June 26, 2017 | Volume: 38 | Issue: 10 | Pages: 1365-1371
A Collagen-Binding Adhesin, Acb, and Ten Other Putative MSCRAMM and Pilus Family Proteins of Streptococcus gallolyticus subsp. gallolyticus ( Streptococcus bovis G
Sillanpää, Jouko, Nallapareddy, Sreedhar R., Qin, Xiang , Singh, Kavindra V. , Muzny, Donna M., Kovar, Christie, Nazareth, Lynne V., Gibbs, Richard A. , Ferraro, Mary Jane, Steckelberg, James M., Weinstock, George M. , Murray, Barbara E.
Journal of Bacteriology | August 29, 2009 | Volume: 191 | Issue: 21 | Pages: 6643-6653
ABSTRACT Members of the Streptococcus bovis group are important causes of endocarditis. However, factors associated with their pathogenicity, such as adhesins, remain uncharacterized. We recently demonstrated that endocarditis-derived Streptococcus gallolyticus subsp. gallolyticus isolates frequently adhere to extracellular matrix (ECM) proteins. Here, we generated a draft genome sequence of an ECM protein-adherent S. gallolyticus subsp. gallolyticus strain and found, by genome-wide analyses, 11 predicted LPXTG-type cell wall-anchored proteins with characteristics of MSCRAMMs, including a modular architecture of domains predicted to adopt immunoglobulin (Ig)-like folding. A recombinant segment of one of these, Acb, showed high-affinity binding to immobilized collagen, and cell surface expression of Acb correlated with the presence of acb and collagen adherence of isolates. Three of the 11 proteins have similarities to major pilus subunits and are organized in separate clusters, each including a second Ig-fold-containing MSCRAMM and a class C sortase, suggesting that the sequenced strain encodes three distinct types of pili. Reverse transcription-PCR demonstrated that all three genes of one cluster, acb - sbs7 - srtC1 , are cotranscribed, consistent with pilus operons of other gram-positive bacteria. Further analysis detected expression of all 11 genes in cells grown to mid to late exponential growth phases. Wide distribution of 9 of the 11 genes was observed among S. gallolyticus subsp. gallolyticus isolates with fewer genes present in other S. bovis group species/subspecies. The high prevalence of genes encoding putative MSCRAMMs and pili, including a collagen-binding MSCRAMM, among S. gallolyticus subsp. gallolyticus isolates may play an important role in the predominance of this subspecies in S. bovis endocarditis.