FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4296794155> ?p ?o ?g. }

• W4296794155 endingPage "241" @default.
• W4296794155 startingPage "232" @default.
• W4296794155 abstract "Genetic screening can benefit early detection and intervention for hearing loss. The frequency of common deafness-associated variants in general populations is highly important for genetic screening and genetic counseling tailored to different ethnic backgrounds. We aimed to analyze the frequency of common deafness-associated variants in a large population-based Chinese newborn cohort and to explore the population-specific features in diverse populations worldwide.This population-based cohort study analyzed the frequency of common deafness-associated variants in 3,555,336 newborns in the Chinese Newborn Concurrent Hearing and Genetic Screening cohort. Participants were newborn infants born between January 2007 and September 2020. Limited genetic screening for 20 variants in 4 common deafness-associated genes and newborn hearing screening were offered concurrently to all newborns in the Chinese Newborn Concurrent Hearing and Genetic Screening cohort. Sequence information of 141,456 individuals was also analyzed from seven ethnic populations from the Genome Aggregation Database for 20 common deafness-related variants. Statistical analysis was performed using R.A total of 3,555,326 Chinese neonates completed the Newborn Concurrent Hearing and Genetic Screening were included for analysis. We reported the distinct landscape of common deafness-associated variants in this large population-based cohort. We found that the carrier frequencies of GJB2 , SLC26A4 , GJB3 , and MT-RNR were 2.53%, 2.05%, 0.37%, and 0.25%, respectively. Furthermore, GJB2 c.235delC was the most common variant with an allele frequency of 0.99% in the Chinese newborn population. We also demonstrated nine East-Asia-enriched variants, one Ashkenazi Jewish-enriched variant, and one European/American-enriched variant for hearing loss.We showed the distinct landscape of common deafness-associated variants in the Chinese newborn population and provided insights into population-specific features in diverse populations. These data can serve as a powerful resource for otolaryngologists and clinical geneticists to inform population-adjusted genetic screening programs for hearing loss." @default.
• W4296794155 created "2022-09-24" @default.
• W4296794155 creator A5000164852 @default.
• W4296794155 creator A5010613477 @default.
• W4296794155 creator A5014265119 @default.
• W4296794155 creator A5021389742 @default.
• W4296794155 creator A5029636776 @default.
• W4296794155 creator A5054300733 @default.
• W4296794155 creator A5063457276 @default.
• W4296794155 creator A5080930329 @default.
• W4296794155 creator A5083610695 @default.
• W4296794155 date "2022-09-23" @default.
• W4296794155 modified "2023-09-30" @default.
• W4296794155 title "The Frequency of Common Deafness-Associated Variants Among 3,555,336 Newborns in China and 141,456 Individuals Across Seven Populations Worldwide" @default.
• W4296794155 cites W1416637655 @default.
• W4296794155 cites W1493480907 @default.
• W4296794155 cites W1963768450 @default.
• W4296794155 cites W1965644462 @default.
• W4296794155 cites W1967164346 @default.
• W4296794155 cites W1968852642 @default.
• W4296794155 cites W1978672482 @default.
• W4296794155 cites W1984535376 @default.
• W4296794155 cites W1991259792 @default.
• W4296794155 cites W1999498974 @default.
• W4296794155 cites W2019304102 @default.
• W4296794155 cites W2019385606 @default.
• W4296794155 cites W2021691368 @default.
• W4296794155 cites W2026170277 @default.
• W4296794155 cites W2039224372 @default.
• W4296794155 cites W2057611441 @default.
• W4296794155 cites W2060558146 @default.
• W4296794155 cites W2060798932 @default.
• W4296794155 cites W2061670733 @default.
• W4296794155 cites W2073871607 @default.
• W4296794155 cites W2088635199 @default.
• W4296794155 cites W2092890929 @default.
• W4296794155 cites W2105041673 @default.
• W4296794155 cites W2118961260 @default.
• W4296794155 cites W2134782349 @default.
• W4296794155 cites W2140510044 @default.
• W4296794155 cites W2148872965 @default.
• W4296794155 cites W2159847426 @default.
• W4296794155 cites W2162031192 @default.
• W4296794155 cites W2163451904 @default.
• W4296794155 cites W2166200872 @default.
• W4296794155 cites W2268929157 @default.
• W4296794155 cites W2293733321 @default.
• W4296794155 cites W2440791566 @default.
• W4296794155 cites W2523675470 @default.
• W4296794155 cites W2774982502 @default.
• W4296794155 cites W2810653226 @default.
• W4296794155 cites W2899989643 @default.
• W4296794155 cites W2902030880 @default.
• W4296794155 cites W2948480340 @default.
• W4296794155 cites W2950999803 @default.
• W4296794155 cites W2967146927 @default.
• W4296794155 cites W2975627506 @default.
• W4296794155 cites W3003572023 @default.
• W4296794155 cites W3013384238 @default.
• W4296794155 cites W3090363547 @default.
• W4296794155 cites W3116988211 @default.
• W4296794155 cites W3127029466 @default.
• W4296794155 cites W3181361901 @default.
• W4296794155 cites W3199476782 @default.
• W4296794155 cites W33964925 @default.
• W4296794155 cites W4210322968 @default.
• W4296794155 cites W952073467 @default.
• W4296794155 doi "https://doi.org/10.1097/aud.0000000000001274" @default.
• W4296794155 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36149380" @default.
• W4296794155 hasPublicationYear "2022" @default.
• W4296794155 type Work @default.
• W4296794155 citedByCount "4" @default.
• W4296794155 countsByYear W42967941552023 @default.
• W4296794155 crossrefType "journal-article" @default.
• W4296794155 hasAuthorship W4296794155A5000164852 @default.
• W4296794155 hasAuthorship W4296794155A5010613477 @default.
• W4296794155 hasAuthorship W4296794155A5014265119 @default.
• W4296794155 hasAuthorship W4296794155A5021389742 @default.
• W4296794155 hasAuthorship W4296794155A5029636776 @default.
• W4296794155 hasAuthorship W4296794155A5054300733 @default.
• W4296794155 hasAuthorship W4296794155A5063457276 @default.
• W4296794155 hasAuthorship W4296794155A5080930329 @default.
• W4296794155 hasAuthorship W4296794155A5083610695 @default.
• W4296794155 hasBestOaLocation W42967941551 @default.
• W4296794155 hasConcept C104317684 @default.
• W4296794155 hasConcept C126322002 @default.
• W4296794155 hasConcept C180754005 @default.
• W4296794155 hasConcept C187212893 @default.
• W4296794155 hasConcept C201903717 @default.
• W4296794155 hasConcept C2776169613 @default.
• W4296794155 hasConcept C2780493683 @default.
• W4296794155 hasConcept C2908647359 @default.
• W4296794155 hasConcept C37463918 @default.
• W4296794155 hasConcept C54355233 @default.
• W4296794155 hasConcept C548259974 @default.
• W4296794155 hasConcept C71924100 @default.
• W4296794155 hasConcept C72563966 @default.
• W4296794155 hasConcept C80227256 @default.

• next