Matches in SemOpenAlex for { <https://semopenalex.org/work/W88579216> ?p ?o ?g. }
Showing items 1 to 89 of
89
with 100 items per page.
- W88579216 abstract "RP-19Orphan human Mendelian recessive diseases are individually rare, but together constitute a major healthcare burden and cause significant childhood morbidity and mortality. 20-30% of all infant deaths and 11% of pediatric hospital admissions are related to genetic disorders. In collaboration with the Beyond Batten Disease Foundation, NCGR is developing a carrier screening test for 448 autosomal recessive (AR) and X-linked recessive (XLR) disorders caused by tens of thousands of mutations.The screening test will utilize target enrichment of genes, multiplexed deep, next-generation sequencing, and automated bioinformatic analysis to indentify carrier status for causal mutations for the 448 selected disorders.To identify the appropriate target enrichment technology for the carrier screening test, a total of 24 samples from carriers of 17 autosomal recessive diseases and 1 X-linked recessive disease were enriched for 437 genes using Agilent SureSelect, RainDance, febit, and Olink enrichment techniques and subjected to multiplexed deep sequencing using the Illumina GA IIx. The 24 samples contained 42 previously characterized mutations including 18 SNPs, 12 short in/dels, and 7 gross deletions impacting both coding and splicing elements. The four enrichment techniques were evaluated for % sequencing reads on target, fold enrichment and mutation detection, with a desired sequencing threshold of at least 20x coverage of at least 99% of targeted nucleotides based upon 500 Mb of aligned sequences, less than 1% of targeted nucleotides with zero coverage, and very high sensitivity and specificity for heterozygous variant detection.The results of the target enrichment comparison will be presented.The orphan disease carrier screening assessment will become available in early 2010 and is targeted to cost $500." @default.
- W88579216 created "2016-06-24" @default.
- W88579216 creator A5010177090 @default.
- W88579216 creator A5033400088 @default.
- W88579216 creator A5046547801 @default.
- W88579216 creator A5046702848 @default.
- W88579216 creator A5057731711 @default.
- W88579216 creator A5060283961 @default.
- W88579216 creator A5062051971 @default.
- W88579216 creator A5078535869 @default.
- W88579216 creator A5079321440 @default.
- W88579216 date "2010-09-01" @default.
- W88579216 modified "2023-09-27" @default.
- W88579216 title "Carrier Screening of Recessive Genetic Disorders by Exon Capture and Next-Generation Sequencing" @default.
- W88579216 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2918098" @default.
- W88579216 hasPublicationYear "2010" @default.
- W88579216 type Work @default.
- W88579216 sameAs 88579216 @default.
- W88579216 citedByCount "1" @default.
- W88579216 crossrefType "journal-article" @default.
- W88579216 hasAuthorship W88579216A5010177090 @default.
- W88579216 hasAuthorship W88579216A5033400088 @default.
- W88579216 hasAuthorship W88579216A5046547801 @default.
- W88579216 hasAuthorship W88579216A5046702848 @default.
- W88579216 hasAuthorship W88579216A5057731711 @default.
- W88579216 hasAuthorship W88579216A5060283961 @default.
- W88579216 hasAuthorship W88579216A5062051971 @default.
- W88579216 hasAuthorship W88579216A5078535869 @default.
- W88579216 hasAuthorship W88579216A5079321440 @default.
- W88579216 hasConcept C104317684 @default.
- W88579216 hasConcept C158951850 @default.
- W88579216 hasConcept C172680121 @default.
- W88579216 hasConcept C175783326 @default.
- W88579216 hasConcept C2776169613 @default.
- W88579216 hasConcept C2778258057 @default.
- W88579216 hasConcept C2779234561 @default.
- W88579216 hasConcept C2780673598 @default.
- W88579216 hasConcept C36823959 @default.
- W88579216 hasConcept C47042493 @default.
- W88579216 hasConcept C501734568 @default.
- W88579216 hasConcept C51679486 @default.
- W88579216 hasConcept C54355233 @default.
- W88579216 hasConcept C70721500 @default.
- W88579216 hasConcept C71924100 @default.
- W88579216 hasConcept C86803240 @default.
- W88579216 hasConceptScore W88579216C104317684 @default.
- W88579216 hasConceptScore W88579216C158951850 @default.
- W88579216 hasConceptScore W88579216C172680121 @default.
- W88579216 hasConceptScore W88579216C175783326 @default.
- W88579216 hasConceptScore W88579216C2776169613 @default.
- W88579216 hasConceptScore W88579216C2778258057 @default.
- W88579216 hasConceptScore W88579216C2779234561 @default.
- W88579216 hasConceptScore W88579216C2780673598 @default.
- W88579216 hasConceptScore W88579216C36823959 @default.
- W88579216 hasConceptScore W88579216C47042493 @default.
- W88579216 hasConceptScore W88579216C501734568 @default.
- W88579216 hasConceptScore W88579216C51679486 @default.
- W88579216 hasConceptScore W88579216C54355233 @default.
- W88579216 hasConceptScore W88579216C70721500 @default.
- W88579216 hasConceptScore W88579216C71924100 @default.
- W88579216 hasConceptScore W88579216C86803240 @default.
- W88579216 hasLocation W885792161 @default.
- W88579216 hasOpenAccess W88579216 @default.
- W88579216 hasPrimaryLocation W885792161 @default.
- W88579216 hasRelatedWork W1934698064 @default.
- W88579216 hasRelatedWork W1968478835 @default.
- W88579216 hasRelatedWork W1979214076 @default.
- W88579216 hasRelatedWork W1990734217 @default.
- W88579216 hasRelatedWork W2042594353 @default.
- W88579216 hasRelatedWork W2045581545 @default.
- W88579216 hasRelatedWork W2048748308 @default.
- W88579216 hasRelatedWork W2089548728 @default.
- W88579216 hasRelatedWork W2111854393 @default.
- W88579216 hasRelatedWork W2160649149 @default.
- W88579216 hasRelatedWork W2162927752 @default.
- W88579216 hasRelatedWork W2210202376 @default.
- W88579216 hasRelatedWork W2233252933 @default.
- W88579216 hasRelatedWork W2291918440 @default.
- W88579216 hasRelatedWork W2433822412 @default.
- W88579216 hasRelatedWork W2499535528 @default.
- W88579216 hasRelatedWork W2555300862 @default.
- W88579216 hasRelatedWork W2585057233 @default.
- W88579216 hasRelatedWork W2765124059 @default.
- W88579216 hasRelatedWork W3013142073 @default.
- W88579216 hasVolume "21" @default.
- W88579216 isParatext "false" @default.
- W88579216 isRetracted "false" @default.
- W88579216 magId "88579216" @default.
- W88579216 workType "article" @default.