FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2890140813> ?p ?o ?g. }

• W2890140813 abstract "Deafness is a highly heterogenous disorder with over 100 genes known to underlie human non-syndromic hearing impairment. However, many more remain undiscovered, particularly those involved in the most common form of deafness: adult-onset progressive hearing loss. Despite several genome-wide association studies of adult hearing status, it remains unclear whether the genetic architecture of this common sensory loss consists of multiple rare variants each with large effect size or many common susceptibility variants each with small to medium effects. As next generation sequencing is now being utilised in clinical diagnosis, our aim was to explore the viability of diagnosing the genetic cause of hearing loss using whole exome sequencing in individual subjects as in a clinical setting.We performed exome sequencing of thirty patients selected for distinct phenotypic sub-types from well-characterised cohorts of 1479 people with adult-onset hearing loss.Every individual carried predicted pathogenic variants in at least ten deafness-associated genes; similar findings were obtained from an analysis of the 1000 Genomes Project data unselected for hearing status. We have identified putative causal variants in known deafness genes and several novel candidate genes, including NEDD4 and NEFH that were mutated in multiple individuals.The high frequency of predicted-pathogenic variants detected in known deafness-associated genes was unexpected and has significant implications for current diagnostic sequencing in deafness. Our findings suggest that in a clinic setting, efforts should be made to a) confirm key sequence results by Sanger sequencing, b) assess segregations of variants and phenotypes within the family if at all possible, and c) use caution in applying current pathogenicity prediction algorithms for diagnostic purposes. We conclude that there may be a high number of pathogenic variants affecting hearing in the ageing population, including many in known deafness-associated genes. Our findings of frequent predicted-pathogenic variants in both our hearing-impaired sample and in the larger 1000 Genomes Project sample unselected for auditory function suggests that the reference population for interpreting variants for this very common disorder should be a population of people with good hearing for their age rather than an unselected population." @default.
• W2890140813 created "2018-09-27" @default.
• W2890140813 creator A5026482427 @default.
• W2890140813 creator A5032282172 @default.
• W2890140813 creator A5058962367 @default.
• W2890140813 creator A5059431598 @default.
• W2890140813 creator A5060185153 @default.
• W2890140813 creator A5060911051 @default.
• W2890140813 creator A5068417036 @default.
• W2890140813 creator A5080199119 @default.
• W2890140813 date "2018-09-04" @default.
• W2890140813 modified "2023-10-18" @default.
• W2890140813 title "Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes" @default.
• W2890140813 cites W1577238749 @default.
• W2890140813 cites W1595234035 @default.
• W2890140813 cites W1608462692 @default.
• W2890140813 cites W1809106246 @default.
• W2890140813 cites W1919182930 @default.
• W2890140813 cites W1969018070 @default.
• W2890140813 cites W1974570770 @default.
• W2890140813 cites W1975827630 @default.
• W2890140813 cites W1979229570 @default.
• W2890140813 cites W1991844388 @default.
• W2890140813 cites W1998491537 @default.
• W2890140813 cites W2000663528 @default.
• W2890140813 cites W2001456860 @default.
• W2890140813 cites W2002473366 @default.
• W2890140813 cites W2003831397 @default.
• W2890140813 cites W2005143680 @default.
• W2890140813 cites W2005196318 @default.
• W2890140813 cites W2010009765 @default.
• W2890140813 cites W2010690509 @default.
• W2890140813 cites W2018993912 @default.
• W2890140813 cites W2022414157 @default.
• W2890140813 cites W2024313468 @default.
• W2890140813 cites W2026401556 @default.
• W2890140813 cites W2030686355 @default.
• W2890140813 cites W2031148620 @default.
• W2890140813 cites W2031375292 @default.
• W2890140813 cites W2031927417 @default.
• W2890140813 cites W2047464860 @default.
• W2890140813 cites W2051632261 @default.
• W2890140813 cites W2058665348 @default.
• W2890140813 cites W2073497058 @default.
• W2890140813 cites W2077882371 @default.
• W2890140813 cites W2078577861 @default.
• W2890140813 cites W2081399205 @default.
• W2890140813 cites W2085832582 @default.
• W2890140813 cites W2086388590 @default.
• W2890140813 cites W2091798624 @default.
• W2890140813 cites W2093298785 @default.
• W2890140813 cites W2093976633 @default.
• W2890140813 cites W2094890942 @default.
• W2890140813 cites W2095659495 @default.
• W2890140813 cites W2099658407 @default.
• W2890140813 cites W2104549677 @default.
• W2890140813 cites W2110252452 @default.
• W2890140813 cites W2117366861 @default.
• W2890140813 cites W2142564809 @default.
• W2890140813 cites W2143683874 @default.
• W2890140813 cites W2145112530 @default.
• W2890140813 cites W2147530538 @default.
• W2890140813 cites W2149817860 @default.
• W2890140813 cites W2152227233 @default.
• W2890140813 cites W2162098634 @default.
• W2890140813 cites W2164635241 @default.
• W2890140813 cites W2164963523 @default.
• W2890140813 cites W2270664582 @default.
• W2890140813 cites W2331651806 @default.
• W2890140813 cites W2535589380 @default.
• W2890140813 cites W2536892348 @default.
• W2890140813 cites W2736307756 @default.
• W2890140813 doi "https://doi.org/10.1186/s12920-018-0395-1" @default.
• W2890140813 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6123954" @default.
• W2890140813 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30180840" @default.
• W2890140813 hasPublicationYear "2018" @default.
• W2890140813 type Work @default.
• W2890140813 sameAs 2890140813 @default.
• W2890140813 citedByCount "37" @default.
• W2890140813 countsByYear W28901408132019 @default.
• W2890140813 countsByYear W28901408132020 @default.
• W2890140813 countsByYear W28901408132021 @default.
• W2890140813 countsByYear W28901408132022 @default.
• W2890140813 countsByYear W28901408132023 @default.
• W2890140813 crossrefType "journal-article" @default.
• W2890140813 hasAuthorship W2890140813A5026482427 @default.
• W2890140813 hasAuthorship W2890140813A5032282172 @default.
• W2890140813 hasAuthorship W2890140813A5058962367 @default.
• W2890140813 hasAuthorship W2890140813A5059431598 @default.
• W2890140813 hasAuthorship W2890140813A5060185153 @default.
• W2890140813 hasAuthorship W2890140813A5060911051 @default.
• W2890140813 hasAuthorship W2890140813A5068417036 @default.
• W2890140813 hasAuthorship W2890140813A5080199119 @default.
• W2890140813 hasBestOaLocation W28901408131 @default.
• W2890140813 hasConcept C104317684 @default.
• W2890140813 hasConcept C10590036 @default.
• W2890140813 hasConcept C127716648 @default.
• W2890140813 hasConcept C141231307 @default.
• W2890140813 hasConcept C16671776 @default.
• W2890140813 hasConcept C24432333 @default.

• next