FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2145227610> ?p ?o ?g. }

• W2145227610 endingPage "494" @default.
• W2145227610 startingPage "494" @default.
• W2145227610 abstract "Purpose.: To determine whether massively parallel next-generation DNA sequencing offers rapid and efficient detection of disease-causing mutations in patients with monogenic inherited diseases. Retinitis pigmentosa (RP) is a challenging application for this technology because it is a monogenic disease in individuals and families but is highly heterogeneous in patient populations. RP has multiple patterns of inheritance, with mutations in many genes for each inheritance pattern and numerous, distinct, disease-causing mutations at each locus; further, many RP genes have not been identified yet. Methods.: Next-generation sequencing was used to identify mutations in pairs of affected individuals from 21 families with autosomal dominant RP, selected from a cohort of families without mutations in “common” RP genes. One thousand amplicons targeting 249,267 unique bases of 46 candidate genes were sequenced with the 454GS FLX Titanium (Roche Diagnostics, Indianapolis, IN) and GAIIx (Illumina/Solexa, San Diego, CA) platforms. Results.: An average sequence depth of 70× and 125× was obtained for the 454GS FLX and GAIIx platforms, respectively. More than 9000 sequence variants were identified and analyzed, to assess the likelihood of pathogenicity. One hundred twelve of these were selected as likely candidates and tested for segregation with traditional di-deoxy capillary electrophoresis sequencing of additional family members and control subjects. Five disease-causing mutations (24%) were identified in the 21 families. Conclusion.: This project demonstrates that next-generation sequencing is an effective approach for detecting novel, rare mutations causing heterogeneous monogenic disorders such as RP. With the addition of this technology, disease-causing mutations can now be identified in 65% of autosomal dominant RP cases." @default.
• W2145227610 created "2016-06-24" @default.
• W2145227610 creator A5012850440 @default.
• W2145227610 creator A5018933449 @default.
• W2145227610 creator A5022808238 @default.
• W2145227610 creator A5025910539 @default.
• W2145227610 creator A5037986951 @default.
• W2145227610 creator A5048366850 @default.
• W2145227610 creator A5050176737 @default.
• W2145227610 creator A5051602947 @default.
• W2145227610 creator A5052546138 @default.
• W2145227610 creator A5061026009 @default.
• W2145227610 creator A5064464245 @default.
• W2145227610 creator A5069561228 @default.
• W2145227610 creator A5071375088 @default.
• W2145227610 creator A5082251778 @default.
• W2145227610 date "2011-01-25" @default.
• W2145227610 modified "2023-09-27" @default.
• W2145227610 title "Identification of Disease-Causing Mutations in Autosomal Dominant Retinitis Pigmentosa (adRP) Using Next-Generation DNA Sequencing" @default.
• W2145227610 cites W138488644 @default.
• W2145227610 cites W1525399598 @default.
• W2145227610 cites W1558709473 @default.
• W2145227610 cites W1571786712 @default.
• W2145227610 cites W1869848680 @default.
• W2145227610 cites W1921611756 @default.
• W2145227610 cites W1969596239 @default.
• W2145227610 cites W1971252547 @default.
• W2145227610 cites W1973878786 @default.
• W2145227610 cites W1982607295 @default.
• W2145227610 cites W1988485709 @default.
• W2145227610 cites W1995140705 @default.
• W2145227610 cites W1998341422 @default.
• W2145227610 cites W2003325423 @default.
• W2145227610 cites W2021812366 @default.
• W2145227610 cites W2025297276 @default.
• W2145227610 cites W2032342270 @default.
• W2145227610 cites W2035571242 @default.
• W2145227610 cites W2048505879 @default.
• W2145227610 cites W2052585139 @default.
• W2145227610 cites W2086860194 @default.
• W2145227610 cites W2113649367 @default.
• W2145227610 cites W2121005867 @default.
• W2145227610 cites W2121176463 @default.
• W2145227610 cites W2122194644 @default.
• W2145227610 cites W2124985265 @default.
• W2145227610 cites W2131278871 @default.
• W2145227610 cites W2135892964 @default.
• W2145227610 cites W2136145671 @default.
• W2145227610 cites W2137691641 @default.
• W2145227610 cites W2138603354 @default.
• W2145227610 cites W2139298839 @default.
• W2145227610 cites W2143732398 @default.
• W2145227610 cites W2152448763 @default.
• W2145227610 cites W2154826595 @default.
• W2145227610 cites W2158437748 @default.
• W2145227610 cites W2161815151 @default.
• W2145227610 cites W2165170253 @default.
• W2145227610 cites W2165748644 @default.
• W2145227610 cites W2166689372 @default.
• W2145227610 cites W2419619392 @default.
• W2145227610 cites W40817687 @default.
• W2145227610 cites W87019950 @default.
• W2145227610 doi "https://doi.org/10.1167/iovs.10-6180" @default.
• W2145227610 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3053293" @default.
• W2145227610 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20861475" @default.
• W2145227610 hasPublicationYear "2011" @default.
• W2145227610 type Work @default.
• W2145227610 sameAs 2145227610 @default.
• W2145227610 citedByCount "77" @default.
• W2145227610 countsByYear W21452276102012 @default.
• W2145227610 countsByYear W21452276102013 @default.
• W2145227610 countsByYear W21452276102014 @default.
• W2145227610 countsByYear W21452276102015 @default.
• W2145227610 countsByYear W21452276102016 @default.
• W2145227610 countsByYear W21452276102017 @default.
• W2145227610 countsByYear W21452276102018 @default.
• W2145227610 countsByYear W21452276102019 @default.
• W2145227610 countsByYear W21452276102020 @default.
• W2145227610 countsByYear W21452276102021 @default.
• W2145227610 countsByYear W21452276102022 @default.
• W2145227610 crossrefType "journal-article" @default.
• W2145227610 hasAuthorship W2145227610A5012850440 @default.
• W2145227610 hasAuthorship W2145227610A5018933449 @default.
• W2145227610 hasAuthorship W2145227610A5022808238 @default.
• W2145227610 hasAuthorship W2145227610A5025910539 @default.
• W2145227610 hasAuthorship W2145227610A5037986951 @default.
• W2145227610 hasAuthorship W2145227610A5048366850 @default.
• W2145227610 hasAuthorship W2145227610A5050176737 @default.
• W2145227610 hasAuthorship W2145227610A5051602947 @default.
• W2145227610 hasAuthorship W2145227610A5052546138 @default.
• W2145227610 hasAuthorship W2145227610A5061026009 @default.
• W2145227610 hasAuthorship W2145227610A5064464245 @default.
• W2145227610 hasAuthorship W2145227610A5069561228 @default.
• W2145227610 hasAuthorship W2145227610A5071375088 @default.
• W2145227610 hasAuthorship W2145227610A5082251778 @default.
• W2145227610 hasBestOaLocation W21452276102 @default.
• W2145227610 hasConcept C104317684 @default.
• W2145227610 hasConcept C192800701 @default.

• next