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- W4308743610 abstract "The mouse model for autism, BTBRT+ Itpr3tf/J (BTBR), has been intensively studied for various biological anomalies at genomic, transcriptomics and proteomics levels. However, complex genomic variations beyond linear differences (i.e., single base pair, or few pairs to several kilo-base pair alterations covering a chromosome) have been undetected, so far. This is largely due to limitations both in sequencing platforms and detection algorithms. However, recent advances have been encouraging in identifying complex genomic structures like tandem repeat variations, and complex inter-chromosomal rearrangements. To further uncover the distinct genetic architecture underlying autism-like phenotypes of this mouse model, we used long-read sequencing and advanced computational pipelines and identified tandem repeats, and rearrangements. We prioritised repeat alleles in 27 disease related genes and nine genomic rearrangements that are unique to the model. To assess impact on several phenotypes related to autism, we also predicted potential disrupting contributions of these alleles on the biological features, like protein structure integrity, genome 3D-folding, transcript splicing sites, enhancers of nearby other genes. Overall, we identified novel alleles that underpin the complex nature of genomic variations which could, together, govern autism related traits within BTBR." @default.
- W4308743610 created "2022-11-15" @default.
- W4308743610 creator A5008674753 @default.
- W4308743610 date "2022-12-01" @default.
- W4308743610 modified "2023-10-16" @default.
- W4308743610 title "Systematic inspection of genomic tandem repeats and rearrangements in autism model" @default.
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- W4308743610 doi "https://doi.org/10.1016/j.dscb.2022.100059" @default.
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