Open Access DOI:10.23937/2378-3648/1410020
Data-driven Biomarker and Drug Discovery using Network-based Approach
Fuhai Li and Ming Zhan
Article Type: Review Article | First Published: November 05, 2015
An increasing body of large-scale genomic profiling data has been being generated on many diseases including cancers and on a number of drugs and compounds. The exploration of such big data has led to data-driven biomedical research. The data-driven studies include exploring disease subtypes with distinct molecular patterns, uncovering novel diagnosis biomarkers or treatments, and discovering new indications of drugs along with novel mechanisms of drug action, among others....
Open Access DOI:10.23937/2378-3648/1410021
A Comparison of SNaPshot Minisequencing and HRM Analysis in mtSNP Genotyping with Reference Samples from East Timor
Luis Souto, Filipa Tavares, Helena Moreira and Fatima Pinheiro
Article Type: Research Article | First Published: December 28, 2015
The analysis of mtDNA in forensic samples is commonly carried out by direct sequencing of the hyper variable regions of the control region, although with limited power of discrimination. Genotyping SNPs in the coding region of mtDNA can provide additional information and increase the discrimination power of mtDNA typing. In this study, we compare two methodologies for the detection of 9 SNPs in the control region of mtDNA: SNaPshot minisequencing and Real Time PCR, through High-Resolution Meltin...
Open Access DOI:10.23937/2378-3648/1410019
Development of a Comprehensive NGS Workflow for the Analysis of Tumor BRCA1 and BRCA2 Mutations and Large Rearrangements
Zhengwei Dong, Hua Dong, Xiaorong Zhong, Zuxiang Peng, Xuehua Zhu, Yun Sun, Yunqin Chen, Changting Liu, Xiaolu Yin, Guanshan Zhu, Hong Zheng and Yi Gu
Article Type: Research Article | First Published: September 28, 2015
Patients with germ line or somatic BRCA1 and BRCA2 mutations are sensitive to PARP inhibitor treatment. However, current clinical testing of BRCA1/2 is limited to germ line mutations in blood samples. In the present study, we have developed and validated a work flow for BRCA1/2 mutation test in patient tumor samples, which can identify both germ line and somatic mutations. Our approach combined targeted capturing with the BRCA MASTR assay and consequent sequencing using Miseq, a benchtop next-ge...
Open Access DOI:10.23937/2378-3648/1410018
Enhanced Detection of Longer Insertions and Deletions in Clinical Exome Sequencing Improves Diagnostic Yield
Deepali N. Shinde, Jefferey Chen, Soren Fischbach, David J. Salvador, Kelly Farwell, Hsiao-Mei Lu and Sha Tang
Article Type: Research Article | First Published: September 17, 2015
Whole exome sequencing (WES) has been remarkably successful as both a diagnostic and novel gene discovery tool since its introduction to the clinical laboratory in 2011. Where traditional diagnostic methods have been uninformative in discovering the pathogenic etiology in patients, diagnostic exome sequencing (DES) has provided answers for roughly one-third of patients tested, thus contributing to the management of patients' overall healthcare. Single nucleotide variants are generally efficientl...
Open Access DOI:10.23937/2378-3648/1410017
Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC)
Heather S.L. Jim, Hui-Yi Lin, Jonathan P. Tyrer, Kate Lawrenson, Joe Dennis, Ganna Chornokur, Zhihua Chen, Ann Y. Chen, Jennifer Permuth-Wey, Katja KH. Aben, Hoda Anton-Culver, Natalia Antonenkova, Fiona Bruinsma, Elisa V. Bandera, Yukie T. Bean, Matthias W. Beckmann, Maria Bisogna, Line Bjorge, Natalia Bogdanova, Louise A. Brinton, Angela Brooks-Wilson, Clareann H. Bunker, Ralf Butzow, Ian G. Campbell, Karen Carty, Jenny Chang-Claude, Linda S. Cook, Daniel W. Cramer, Julie M. Cunningham, Cezary
Article Type: Research Article | First Published: September 15, 2015
Disruption in circadian gene expression, whether due to genetic variation or environmental factors (e.g., light at night, shiftwork), is associated with increased incidence of breast, prostate, gastrointestinal and hematologic cancers and gliomas. Circadian genes are highly expressed in the ovaries where they regulate ovulation; circadian disruption is associated with several ovarian cancer risk factors (e.g., endometriosis). However, no studies have examined variation in germline circadian gene...
