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- W3213705783 abstract "Abstract Inherited retinal diseases (IRDs) are a major cause of visual impairment. These clinically heterogeneous disorders are caused by pathogenic variants in more than 270 genes. As 30–40% of cases remain genetically unexplained following conventional genetic testing, we aimed to obtain a genetic diagnosis in an IRD cohort in which the genetic cause was not found using whole-exome sequencing or targeted capture sequencing. We performed whole-genome sequencing (WGS) to identify causative variants in 100 unresolved cases. After initial prioritization, we performed an in-depth interrogation of all noncoding and structural variants in genes when one candidate variant was detected. In addition, functional analysis of putative splice-altering variants was performed using in vitro splice assays. We identified the genetic cause of the disease in 24 patients. Causative coding variants were observed in genes such as ATXN7 , CEP78 , EYS , FAM161A , and HGSNAT . Gene disrupting structural variants were also detected in ATXN7 , PRPF31 , and RPGRIP1 . In 14 monoallelic cases, we prioritized candidate noncanonical splice sites or deep-intronic variants that were predicted to disrupt the splicing process based on in silico analyses. Of these, seven cases were resolved as they carried pathogenic splice defects. WGS is a powerful tool to identify causative variants residing outside coding regions or heterozygous structural variants. This approach was most efficient in cases with a distinct clinical diagnosis. In addition, in vitro splice assays provide important evidence of the pathogenicity of rare variants." @default.
- W3213705783 created "2021-11-22" @default.
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- W3213705783 date "2021-11-18" @default.
- W3213705783 modified "2023-10-17" @default.
- W3213705783 title "Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases" @default.
- W3213705783 cites W1486121923 @default.
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- W3213705783 cites W1980069581 @default.
- W3213705783 cites W1997760441 @default.
- W3213705783 cites W1998533469 @default.
- W3213705783 cites W2022714591 @default.
- W3213705783 cites W2030805807 @default.
- W3213705783 cites W2034691490 @default.
- W3213705783 cites W2036841261 @default.
- W3213705783 cites W2041048994 @default.
- W3213705783 cites W2044573154 @default.
- W3213705783 cites W2051978340 @default.
- W3213705783 cites W2056967728 @default.
- W3213705783 cites W2064676287 @default.
- W3213705783 cites W2084827058 @default.
- W3213705783 cites W2088016492 @default.
- W3213705783 cites W2096791516 @default.
- W3213705783 cites W2098207011 @default.
- W3213705783 cites W2110400205 @default.
- W3213705783 cites W2111281047 @default.
- W3213705783 cites W2115149771 @default.
- W3213705783 cites W2121743948 @default.
- W3213705783 cites W2125422830 @default.
- W3213705783 cites W2125512367 @default.
- W3213705783 cites W2132123037 @default.
- W3213705783 cites W2132731072 @default.
- W3213705783 cites W2151898028 @default.
- W3213705783 cites W2152745352 @default.
- W3213705783 cites W2160995259 @default.
- W3213705783 cites W2167852161 @default.
- W3213705783 cites W2168692101 @default.
- W3213705783 cites W2170750428 @default.
- W3213705783 cites W2235737683 @default.
- W3213705783 cites W2253755643 @default.
- W3213705783 cites W2256016639 @default.
- W3213705783 cites W2296708716 @default.
- W3213705783 cites W2337055863 @default.
- W3213705783 cites W2395855662 @default.
- W3213705783 cites W2417483443 @default.
- W3213705783 cites W2564368426 @default.
- W3213705783 cites W2590782456 @default.
- W3213705783 cites W2592439909 @default.
- W3213705783 cites W2622435320 @default.
- W3213705783 cites W2737634175 @default.
- W3213705783 cites W2765086853 @default.
- W3213705783 cites W2770960279 @default.
- W3213705783 cites W2793784362 @default.
- W3213705783 cites W2795971072 @default.
- W3213705783 cites W2799812275 @default.
- W3213705783 cites W2885683872 @default.
- W3213705783 cites W2909194804 @default.
- W3213705783 cites W2910182884 @default.
- W3213705783 cites W2910444500 @default.
- W3213705783 cites W2914421200 @default.
- W3213705783 cites W2929296591 @default.
- W3213705783 cites W2949583421 @default.
- W3213705783 cites W2949838248 @default.
- W3213705783 cites W2968782761 @default.
- W3213705783 cites W2970470758 @default.
- W3213705783 cites W2975890880 @default.
- W3213705783 cites W2999977132 @default.
- W3213705783 cites W3008621511 @default.
- W3213705783 cites W3016532672 @default.
- W3213705783 cites W3029661147 @default.
- W3213705783 cites W3034349485 @default.
- W3213705783 cites W3035236757 @default.
- W3213705783 cites W3043344401 @default.
- W3213705783 cites W3047963534 @default.
- W3213705783 cites W3054597842 @default.
- W3213705783 cites W3080580162 @default.
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- W3213705783 doi "https://doi.org/10.1038/s41525-021-00261-1" @default.
- W3213705783 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8602293" @default.
- W3213705783 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34795310" @default.
- W3213705783 hasPublicationYear "2021" @default.
- W3213705783 type Work @default.