FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2049941199> ?p ?o ?g. }

• W2049941199 abstract "Massively Parallel Sequencing (MPS) allows sequencing of entire exomes and genomes to now be done at reasonable cost, and its utility for identifying genes responsible for rare Mendelian disorders has been demonstrated. However, for a complex disease such as the common cancers, study designs need to accommodate substantial degrees of locus, allelic, and phenotypic heterogeneity, as well as complex relationships between genotype and phenotype. Such considerations include careful selection of samples for sequencing and a well-developed strategy for identifying the few “true” disease susceptibility genes from among the many irrelevant genes that will be found to harbor rare variants. To examine these issues we have performed simulation-based analyses in order to compare several strategies for MPS sequencing in complex disease. Factors examined include genetic architecture, sample size, number and relationship of individuals selected for sequencing, and a variety of filters based on variant type, multiple observations of genes and concordance of genetic variants within pedigrees. A two-stage design was assumed where genes from the MPS analysis of high-risk families are evaluated in a secondary screening phase of a larger set of probands with more modest family histories. Designs were evaluated using a cost function that assumed the cost of sequencing the whole exome was 400 times that of sequencing a single candidate gene. Results indicate that while requiring variants to be identified in multiple pedigrees and/or in multiple individuals in the same pedigree are effective strategies for reducing false positives, there is a danger of over-filtering so that most true susceptibility genes are missed. In most cases, sequencing more than two individuals per pedigree results in reduced power without any benefit in terms of reduced overall cost. Further, our results suggest that although no single strategy is optimal, simulations can provide important guidelines for study design. Examples in familial breast cancer and melanoma will be presented to illustrate these points." @default.
• W2049941199 created "2016-06-24" @default.
• W2049941199 creator A5000649443 @default.
• W2049941199 creator A5001260299 @default.
• W2049941199 creator A5019439113 @default.
• W2049941199 creator A5022738409 @default.
• W2049941199 date "2012-04-12" @default.
• W2049941199 modified "2023-10-10" @default.
• W2049941199 title "Design considerations for massively parallel sequencing studies of common familial cancers" @default.
• W2049941199 doi "https://doi.org/10.1186/1897-4287-10-s2-a38" @default.
• W2049941199 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3327154" @default.
• W2049941199 hasPublicationYear "2012" @default.
• W2049941199 type Work @default.
• W2049941199 sameAs 2049941199 @default.
• W2049941199 citedByCount "0" @default.
• W2049941199 crossrefType "journal-article" @default.
• W2049941199 hasAuthorship W2049941199A5000649443 @default.
• W2049941199 hasAuthorship W2049941199A5001260299 @default.
• W2049941199 hasAuthorship W2049941199A5019439113 @default.
• W2049941199 hasAuthorship W2049941199A5022738409 @default.
• W2049941199 hasBestOaLocation W20499411991 @default.
• W2049941199 hasConcept C104317684 @default.
• W2049941199 hasConcept C192800701 @default.
• W2049941199 hasConcept C47042493 @default.
• W2049941199 hasConcept C51679486 @default.
• W2049941199 hasConcept C54355233 @default.
• W2049941199 hasConcept C552990157 @default.
• W2049941199 hasConcept C60644358 @default.
• W2049941199 hasConcept C70721500 @default.
• W2049941199 hasConcept C71924100 @default.
• W2049941199 hasConcept C86803240 @default.
• W2049941199 hasConceptScore W2049941199C104317684 @default.
• W2049941199 hasConceptScore W2049941199C192800701 @default.
• W2049941199 hasConceptScore W2049941199C47042493 @default.
• W2049941199 hasConceptScore W2049941199C51679486 @default.
• W2049941199 hasConceptScore W2049941199C54355233 @default.
• W2049941199 hasConceptScore W2049941199C552990157 @default.
• W2049941199 hasConceptScore W2049941199C60644358 @default.
• W2049941199 hasConceptScore W2049941199C70721500 @default.
• W2049941199 hasConceptScore W2049941199C71924100 @default.
• W2049941199 hasConceptScore W2049941199C86803240 @default.
• W2049941199 hasIssue "S2" @default.
• W2049941199 hasLocation W20499411991 @default.
• W2049941199 hasLocation W20499411992 @default.
• W2049941199 hasLocation W20499411993 @default.
• W2049941199 hasOpenAccess W2049941199 @default.
• W2049941199 hasPrimaryLocation W20499411991 @default.
• W2049941199 hasRelatedWork W1974154205 @default.
• W2049941199 hasRelatedWork W2413737009 @default.
• W2049941199 hasRelatedWork W2509584793 @default.
• W2049941199 hasRelatedWork W2551798852 @default.
• W2049941199 hasRelatedWork W2554372608 @default.
• W2049941199 hasRelatedWork W2605826110 @default.
• W2049941199 hasRelatedWork W2968719521 @default.
• W2049941199 hasRelatedWork W3138785231 @default.
• W2049941199 hasRelatedWork W3209231359 @default.
• W2049941199 hasRelatedWork W4283451324 @default.
• W2049941199 hasVolume "10" @default.
• W2049941199 isParatext "false" @default.
• W2049941199 isRetracted "false" @default.
• W2049941199 magId "2049941199" @default.
• W2049941199 workType "article" @default.