How many genetic variants remain to be discovered?

10.1371/journal.pone.0007969PLoS ONE412

Exome diagnostics: Already a reality?

10.1136/jmedgenet-2011-100385Journal of Medical Genetics489579-579JMDG

Linkage of Diisopropylfluorophosphate exposure and effects in rats using a physiologically based pharmacokinetic and pharmacodynamic model

10.1007/978-3-540-92841-6_412IFMBE Proceedings231659-166

Family medicine education in Singapore: A long-standing collaboration between specialists and family physicians

Annals of the Academy of Medicine Singapore372132-135AAMS

Validation of prediction equations for resting energy expenditure in Singaporean Chinese men

10.1016/j.orcp.2013.05.002Obesity Research and Clinical Practice83e283 - e29

Concerns, perceived impact and preparedness in an avian influenza pandemic - A comparative study between healthcare workers in primary and tertiary care

Annals of the Academy of Medicine Singapore37296-102AAMS

Performance enhancement schemes featuring lattice mismatched S/D stressors concurrently realized on CMOS platform: e-SiGeSn S/D for pFETs by Sn+ implant and SiC S/D for nFETs by C+ implant

10.1109/VLSIT.2008.4588620Digest of Technical Papers - Symposium on VLSI Technology207-208DTPT

Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands

Polymorphous low-grade adenocarcinoma (PLGA) is the second most frequent type of malignant tumor of the minor salivary glands. We identified PRKD1 hotspot mutations encoding p.Glu710Asp in 72.9% of PLGAs but not in other salivary gland tumors. Functional studies demonstrated that this kinase-activating alteration likely constitutes a driver of PLGA

Rare copy number variation in posttraumatic stress disorder.

Posttraumatic stress disorder (PTSD) is a heritable (h <sup>2</sup> = 24-71%) psychiatric illness. Copy number variation (CNV) is a form of rare genetic variation that has been implicated in the etiology of psychiatric disorders, but no large-scale investigation of CNV in PTSD has been performed. We present an association study of CNV burden and PTSD symptoms in a sample of 114,383 participants (13,036 cases and 101,347 controls) of European ancestry. CNVs were called using two calling algorithms and intersected to a consensus set. Quality control was performed to remove strong outlier samples. CNVs were examined for association with PTSD within each cohort using linear or logistic regression analysis adjusted for population structure and CNV quality metrics, then inverse variance weighted meta-analyzed across cohorts. We examined the genome-wide total span of CNVs, enrichment of CNVs within specified gene-sets, and CNVs overlapping individual genes and implicated neurodevelopmental regions. The total distance covered by deletions crossing over known neurodevelopmental CNV regions was significant (beta = 0.029, SE = 0.005, P = 6.3 × 10 <sup>-8</sup> ). The genome-wide neurodevelopmental CNV burden identified explains 0.034% of the variation in PTSD symptoms. The 15q11.2 BP1-BP2 microdeletion region was significantly associated with PTSD (beta = 0.0206, SE = 0.0056, P = 0.0002). No individual significant genes interrupted by CNV were identified. 22 gene pathways related to the function of the nervous system and brain were significant in pathway analysis (FDR q < 0.05), but these associations were not significant once NDD regions were removed. A larger sample size, better detection methods, and annotated resources of CNV are needed to explore this relationship further