FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3212607566> ?p ?o ?g. }

• W3212607566 abstract "Skeletal dysplasia (SD) is one of the most common inherited neonatal disorders worldwide, where the recurrent pathogenic mutations in the FGFR2, FGFR3, COL1A1, COL1A2 and COL2A1 genes are frequently reported in both non-lethal and lethal SD. The traditional prenatal diagnosis of SD using ultrasonography suffers from lower accuracy and performed at latter gestational stage. Therefore, it remains in desperate need of precise and accurate prenatal diagnosis of SD in early pregnancy. With the advancements of next-generation sequencing (NGS) technology and bioinformatics analysis, it is feasible to develop a NGS-based assay to detect genetic defects in association with SD in the early pregnancy.An ampliseq-based targeted sequencing panel was designed to cover 87 recurrent hotspots reported in 11 common dominant SD and run on both Ion Proton and NextSeq550 instruments. Thirty-six cell-free and 23 genomic DNAs were used for assay developed. Spike-in DNA prepared from standard sample harboring known mutation and normal sample were also employed to validate the established SD workflow. Overall performances of coverage, uniformity, and on-target rate, and the detecting limitations on percentage of fetal fraction and read depth were evaluated.The established targeted-seq workflow enables a single-tube multiplex PCR for library construction and shows high amplification efficiency and robust reproducibility on both Ion Proton and NextSeq550 platforms. The workflow reaches 100% coverage and both uniformity and on-target rate are > 96%, indicating a high quality assay. Using spike-in DNA with different percentage of known FGFR3 mutation (c.1138 G > A), the targeted-seq workflow demonstrated the ability to detect low-frequency variant of 2.5% accurately. Finally, we obtained 100% sensitivity and 100% specificity in detecting target mutations using established SD panel.An expanded panel for rapid and cost-effective genetic detection of SD has been developed. The established targeted-seq workflow shows high accuracy to detect both germline and low-frequency variants. In addition, the workflow is flexible to be conducted in the majority of the NGS instruments and ready for routine clinical application. Taken together, we believe the established panel provides a promising diagnostic or therapeutic strategy for prenatal genetic testing of SD in routine clinical practice." @default.
• W3212607566 created "2021-11-22" @default.
• W3212607566 creator A5014498830 @default.
• W3212607566 creator A5024262740 @default.
• W3212607566 creator A5049312565 @default.
• W3212607566 creator A5049312650 @default.
• W3212607566 creator A5054958335 @default.
• W3212607566 creator A5060610988 @default.
• W3212607566 creator A5075190724 @default.
• W3212607566 date "2021-11-17" @default.
• W3212607566 modified "2023-10-15" @default.
• W3212607566 title "Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia" @default.
• W3212607566 cites W1576120545 @default.
• W3212607566 cites W1584452031 @default.
• W3212607566 cites W1930718057 @default.
• W3212607566 cites W1966000815 @default.
• W3212607566 cites W1973021479 @default.
• W3212607566 cites W1977828694 @default.
• W3212607566 cites W1988094276 @default.
• W3212607566 cites W1990210543 @default.
• W3212607566 cites W1991676563 @default.
• W3212607566 cites W2009443011 @default.
• W3212607566 cites W2010786205 @default.
• W3212607566 cites W2017601587 @default.
• W3212607566 cites W2024273344 @default.
• W3212607566 cites W2050814353 @default.
• W3212607566 cites W2059973880 @default.
• W3212607566 cites W2066162631 @default.
• W3212607566 cites W2067581789 @default.
• W3212607566 cites W2070185078 @default.
• W3212607566 cites W2072637750 @default.
• W3212607566 cites W2073966710 @default.
• W3212607566 cites W2090779839 @default.
• W3212607566 cites W2097351942 @default.
• W3212607566 cites W2100977485 @default.
• W3212607566 cites W2103432148 @default.
• W3212607566 cites W2103441770 @default.
• W3212607566 cites W2107488552 @default.
• W3212607566 cites W2108234281 @default.
• W3212607566 cites W2115865929 @default.
• W3212607566 cites W2131950737 @default.
• W3212607566 cites W2135197595 @default.
• W3212607566 cites W2138601221 @default.
• W3212607566 cites W2142703095 @default.
• W3212607566 cites W2153429518 @default.
• W3212607566 cites W2156786174 @default.
• W3212607566 cites W2163821640 @default.
• W3212607566 cites W2206731767 @default.
• W3212607566 cites W2259592401 @default.
• W3212607566 cites W2304422002 @default.
• W3212607566 cites W2339851290 @default.
• W3212607566 cites W2340606761 @default.
• W3212607566 cites W2341242731 @default.
• W3212607566 cites W2412832799 @default.
• W3212607566 cites W2476542314 @default.
• W3212607566 cites W2477490772 @default.
• W3212607566 cites W2561993249 @default.
• W3212607566 cites W2764059671 @default.
• W3212607566 cites W2769986303 @default.
• W3212607566 cites W2778233975 @default.
• W3212607566 cites W2793741565 @default.
• W3212607566 cites W2883203449 @default.
• W3212607566 cites W2888896776 @default.
• W3212607566 cites W2911965980 @default.
• W3212607566 cites W2912687741 @default.
• W3212607566 cites W2941323617 @default.
• W3212607566 cites W2944068624 @default.
• W3212607566 cites W2962911389 @default.
• W3212607566 cites W2981690656 @default.
• W3212607566 cites W2993338355 @default.
• W3212607566 cites W3049550863 @default.
• W3212607566 cites W4235285179 @default.
• W3212607566 cites W4300713807 @default.
• W3212607566 cites W95506870 @default.
• W3212607566 doi "https://doi.org/10.1186/s12920-021-01063-1" @default.
• W3212607566 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8600686" @default.
• W3212607566 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34789231" @default.
• W3212607566 hasPublicationYear "2021" @default.
• W3212607566 type Work @default.
• W3212607566 sameAs 3212607566 @default.
• W3212607566 citedByCount "4" @default.
• W3212607566 countsByYear W32126075662022 @default.
• W3212607566 countsByYear W32126075662023 @default.
• W3212607566 crossrefType "journal-article" @default.
• W3212607566 hasAuthorship W3212607566A5014498830 @default.
• W3212607566 hasAuthorship W3212607566A5024262740 @default.
• W3212607566 hasAuthorship W3212607566A5049312565 @default.
• W3212607566 hasAuthorship W3212607566A5049312650 @default.
• W3212607566 hasAuthorship W3212607566A5054958335 @default.
• W3212607566 hasAuthorship W3212607566A5060610988 @default.
• W3212607566 hasAuthorship W3212607566A5075190724 @default.
• W3212607566 hasBestOaLocation W32126075661 @default.
• W3212607566 hasConcept C104317684 @default.
• W3212607566 hasConcept C152110520 @default.
• W3212607566 hasConcept C164928082 @default.
• W3212607566 hasConcept C172680121 @default.
• W3212607566 hasConcept C178790620 @default.
• W3212607566 hasConcept C185592680 @default.
• W3212607566 hasConcept C2775894508 @default.
• W3212607566 hasConcept C2777563447 @default.

• next