whole genome sequencingabnormal development of the neural tubecloacaRubinstein-Taybi syndromeAuthor information: (1)Royal Children's Hospital, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia....
In 2015, a marked increase in vancomycin-resistant(VREfm) isolation was detected at the Royal Hobart Hospital, Australia. The primary objective of this work was to examine the dynamics of VREfm transmission using whole genome data mapped to public health surveillance information. Screening and ...
Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia Chien-Hsiung Yu, Cynthia Louis & Seth L. Masters Department of Medical Biology, University of Melbourne, Parkville, Australia Chien-Hsiung Yu, Cynthia Louis & Seth L. Masters ...
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy Hui Wang, Timothy S. Chang, Beth A. Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel...
Whole genome sequencing is poised to revolutionize personalized medicine, providing the capacity to classify individuals into risk categories for a wide range of diseases. Here we begin to explore how whole genome sequencing (WGS) might be incorporated alongside traditional clinical evaluation as a part...
Therefore, using whole-exome and whole-genome sequencing (WES and WGS, respectively), we aimed to identify novel PAVs and protein-truncating variants (PTVs, as putative loss-of-function variants) affecting serum lipid and lipoprotein measurements, complemented with serum nuclear magnetic resonance (...
Whole genome FFPE sample library preparation and sequencing For the FFPE WGS study, NEBNext Ultra II (NEB) libraries were prepared according to the manufacturer’s instructions. However, input adjustments were made according to the dCq obtained for each sample using the TruSeq FFPE DNA Library Pr...
Whole-genome sequencing has proven valuable and critical for refining the phylogenetic positions of a series of rhizobial strains [47]. In this study, we sequenced, assembled, and annotated the M. huakuaii 7653R genome. We used this genome sequence to examine the phylogenetic position of MAFF30...
Human population genomic studies, including whole‐genome sequencing, were undertaken to identify determinants of bone mineral density (BMD), a major predictor of osteoporotic fractures. Non‐coding variants with large effects on BMD and fractures were i
School of Applied Systems Biology, La Trobe University, Bundoora, Victoria, Australia Hans D Daetwyler & Ben J Hayes Dairy Futures Cooperative Research Centre, Bundoora, Victoria, Australia Hans D Daetwyler, Phil J Bowman, David Coote, Amanda J Chamberlain, Mike E Goddard & Ben J Hayes ...