FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2262626337> ?p ?o ?g. }

• W2262626337 endingPage "948" @default.
• W2262626337 startingPage "940" @default.
• W2262626337 abstract "Chromosomal microarray analysis is the gold standard for copy-number variant (CNV) detection in prenatal and postnatal diagnosis. We aimed to determine whether next-generation sequencing (NGS) technology could be an alternative method for CNV detection in routine clinical application.Genome-wide CNV analysis (>50 kb) was performed on a multicenter group of 570 patients using a low-coverage whole-genome sequencing pipeline. These samples were referred for chromosomal analysis; CNVs (i.e., pathogenic CNVs, pCNVs) were classified according to the American College of Medical Genetics and Genomics guidelines.Overall, a total of 198 abortuses, 37 stillbirths, 149 prenatal, and 186 postnatal samples were tested. Our approach yielded results in 549 samples (96.3%). In addition to 119 subjects with aneuploidies, 103 pCNVs (74 losses and 29 gains) were identified in 82 samples, giving diagnostic yields of 53.2% (95% confidence interval: 45.8, 60.5), 14.7% (5.0, 31.1), 28.5% (21.1, 36.6), and 30.1% (23.6, 37.3) in each group, respectively. Mosaicism was observed at a level as low as 25%.Patients with chromosomal diseases or microdeletion/microduplication syndromes were diagnosed using a high-resolution genome-wide method. Our study revealed the potential of NGS to facilitate genetic diagnoses that were not evident in the prenatal and postnatal groups.Genet Med 18 9, 940-948." @default.
• W2262626337 created "2016-06-24" @default.
• W2262626337 creator A5003909773 @default.
• W2262626337 creator A5017431965 @default.
• W2262626337 creator A5028863414 @default.
• W2262626337 creator A5032020402 @default.
• W2262626337 creator A5036167349 @default.
• W2262626337 creator A5042241049 @default.
• W2262626337 creator A5046597133 @default.
• W2262626337 creator A5049397369 @default.
• W2262626337 creator A5051364953 @default.
• W2262626337 creator A5051380617 @default.
• W2262626337 creator A5053824734 @default.
• W2262626337 creator A5060723505 @default.
• W2262626337 creator A5071672663 @default.
• W2262626337 creator A5077753628 @default.
• W2262626337 creator A5083890521 @default.
• W2262626337 creator A5084837345 @default.
• W2262626337 creator A5088348596 @default.
• W2262626337 creator A5089759016 @default.
• W2262626337 creator A5090286839 @default.
• W2262626337 date "2016-09-01" @default.
• W2262626337 modified "2023-10-17" @default.
• W2262626337 title "Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach" @default.
• W2262626337 cites W1563893472 @default.
• W2262626337 cites W1588460931 @default.
• W2262626337 cites W1789263561 @default.
• W2262626337 cites W1928780213 @default.
• W2262626337 cites W1977249890 @default.
• W2262626337 cites W1983660707 @default.
• W2262626337 cites W1985505990 @default.
• W2262626337 cites W1991633140 @default.
• W2262626337 cites W1999545910 @default.
• W2262626337 cites W2001725958 @default.
• W2262626337 cites W2001892192 @default.
• W2262626337 cites W2011172223 @default.
• W2262626337 cites W2012151892 @default.
• W2262626337 cites W2023532519 @default.
• W2262626337 cites W2024386053 @default.
• W2262626337 cites W2028504150 @default.
• W2262626337 cites W2029086599 @default.
• W2262626337 cites W2035101613 @default.
• W2262626337 cites W2044823121 @default.
• W2262626337 cites W2046247026 @default.
• W2262626337 cites W2061900725 @default.
• W2262626337 cites W2075304537 @default.
• W2262626337 cites W2079826972 @default.
• W2262626337 cites W2095063639 @default.
• W2262626337 cites W2096791516 @default.
• W2262626337 cites W2097341408 @default.
• W2262626337 cites W2109384840 @default.
• W2262626337 cites W2112113834 @default.
• W2262626337 cites W2116126626 @default.
• W2262626337 cites W2120429387 @default.
• W2262626337 cites W2121308112 @default.
• W2262626337 cites W2130407782 @default.
• W2262626337 cites W2144967747 @default.
• W2262626337 cites W2160600337 @default.
• W2262626337 cites W2164080855 @default.
• W2262626337 cites W2167722550 @default.
• W2262626337 cites W2168004538 @default.
• W2262626337 cites W2172267891 @default.
• W2262626337 cites W2417128797 @default.
• W2262626337 cites W308834010 @default.
• W2262626337 doi "https://doi.org/10.1038/gim.2015.199" @default.
• W2262626337 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26820068" @default.
• W2262626337 hasPublicationYear "2016" @default.
• W2262626337 type Work @default.
• W2262626337 sameAs 2262626337 @default.
• W2262626337 citedByCount "129" @default.
• W2262626337 countsByYear W22626263372016 @default.
• W2262626337 countsByYear W22626263372017 @default.
• W2262626337 countsByYear W22626263372018 @default.
• W2262626337 countsByYear W22626263372019 @default.
• W2262626337 countsByYear W22626263372020 @default.
• W2262626337 countsByYear W22626263372021 @default.
• W2262626337 countsByYear W22626263372022 @default.
• W2262626337 countsByYear W22626263372023 @default.
• W2262626337 crossrefType "journal-article" @default.
• W2262626337 hasAuthorship W2262626337A5003909773 @default.
• W2262626337 hasAuthorship W2262626337A5017431965 @default.
• W2262626337 hasAuthorship W2262626337A5028863414 @default.
• W2262626337 hasAuthorship W2262626337A5032020402 @default.
• W2262626337 hasAuthorship W2262626337A5036167349 @default.
• W2262626337 hasAuthorship W2262626337A5042241049 @default.
• W2262626337 hasAuthorship W2262626337A5046597133 @default.
• W2262626337 hasAuthorship W2262626337A5049397369 @default.
• W2262626337 hasAuthorship W2262626337A5051364953 @default.
• W2262626337 hasAuthorship W2262626337A5051380617 @default.
• W2262626337 hasAuthorship W2262626337A5053824734 @default.
• W2262626337 hasAuthorship W2262626337A5060723505 @default.
• W2262626337 hasAuthorship W2262626337A5071672663 @default.
• W2262626337 hasAuthorship W2262626337A5077753628 @default.
• W2262626337 hasAuthorship W2262626337A5083890521 @default.
• W2262626337 hasAuthorship W2262626337A5084837345 @default.
• W2262626337 hasAuthorship W2262626337A5088348596 @default.
• W2262626337 hasAuthorship W2262626337A5089759016 @default.
• W2262626337 hasAuthorship W2262626337A5090286839 @default.

• next