... from tumor tissues collected from 373 male and 89 female patients referred to our clinic with a diagnosis of non-small cell lung cancer are presented. Methods: Patient samples ( n = 462) were assessed via next-generation sequencing using an RNA-based kit containing 36 genes. Data obtained were analyzed...

...Yue Zhai; Claire Bardel; Maxime Vallée; Jean Iwaz; Pascal Roy Introduction: Ideally, evaluating next-generation sequencing performance requires a gold standard; in its absence, concordance between replicates is often used as substitute standard. However, the appropriateness of the concordance...

... the 6 dominant mutants in the Chinese population (c.1376G>T, c.1388G>A, c.95A>G, c.1024C>T, c.392G>T, and c.871G>A). If the 6 hotspot variants were not found, next-generation sequencing was then performed. Finally, Sanger sequencing was used to verify all the mutations. Results...

... or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Rare variants Next-generation sequencing Association Model-based multifactor...

... and the role of many genes within the genome. The opportunity for the discovery of extremely rare autosomal recessive causes of ocular abnormalities from the study of consanguineous families is large, particularly through the powerful combination of next-generation sequencing with autozygosity mapping. Having...

... of disorders both in their clinical presentation and in their genetic aetiology. The availability of large cohorts of consanguineous families and the advent of next-generation sequencing techniques is currently accelerating the pace of gene identification in ARID. Because of the extreme heterogeneity...

...Ioanna Tachmazidou; Andrew Morris; Eleftheria Zeggini Objectives: It is thought that a proportion of the genetic susceptibility to complex diseases is due to low-frequency and rare variants. Next-generation sequencing in large populations facilitates the detection of rare variant associations...

...Wonkuk Kim; Douglas Londono; Lisheng Zhou; Jinchuan Xing; Alejandro Q. Nato; Anthony Musolf; Tara C. Matise; Stephen J. Finch; Derek Gordon As with any new technology, next-generation sequencing (NGS) has potential advantages and potential challenges. One advantage is the identification of multiple...

.... Stewarta, b Ryan L. Subarana aBattelle Center for Mathematical Medicine, Research Institute at Nationwide Children s Hospital, and bDepartment of Pediatrics, Ohio State University, Columbus, Ohio, USA Key Words Type 1 error Linkage analysis Next-generation sequencing Linkage disequilibrium Abstract...

...Guolian Kang; Dongyu Lin; Hakon Hakonarson; Jinbo Chen Next-generation sequencing technology provides an unprecedented opportunity to identify rare susceptibility variants. It is not yet financially feasible to perform whole-genome sequencing on a large number of subjects, and a two-stage design...

... and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Extreme sampling Next-generation sequencing Pedigree samples Quantitative trait loci Rare variants National...

... approaches to designing substudies aimed at using next-generation sequencing technologies to discover novel variants and to select some subsets that are possibly causal for genotyping in the original case-control study and testing for association using various weighted sum indices. We find that the selection...