Focus on your locus with a massively parallel reporter assay / Jessica C. MCAFEE in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : Focus on your locus with a massively parallel reporter assay Type de document : texte imprimé Auteurs : Jessica C. MCAFEE, Auteur ; Jessica L. BELL, Auteur ; Oleh KRUPA, Auteur ; Nana MATOBA, Auteur ; Jason L. STEIN, Auteur ; Hyejung WON, Auteur Langues : Anglais (eng) Mots-clés : Gene Expression Regulation  Genome-Wide Association Study  High-Throughput Nucleotide Sequencing/methods  Humans  Regulatory Sequences, Nucleic Acid  Functional validation  Gwas  Gene regulation  Gene-environment interactions  Mpra  Neurodevelopmental disorders  Noncoding genome  Posttranscriptional regulation  Wgs Index. décimale : PER Périodiques Résumé : A growing number of variants associated with risk for neurodevelopmental disorders have been identified by genome-wide association and whole genome sequencing studies. As common risk variants often fall within large haplotype blocks covering long stretches of the noncoding genome, the causal variants within an associated locus are often unknown. Similarly, the effect of rare noncoding risk variants identified by whole genome sequencing on molecular traits is seldom known without functional assays. A massively parallel reporter assay (MPRA) is an assay that can functionally validate thousands of regulatory elements simultaneously using high-throughput sequencing and barcode technology. MPRA has been adapted to various experimental designs that measure gene regulatory effects of genetic variants within cis- and trans-regulatory elements as well as posttranscriptional processes. This review discusses different MPRA designs that have been or could be used in the future to experimentally validate genetic variants associated with neurodevelopmental disorders. Though MPRA has limitations such as it does not model genomic context, this assay can help narrow down the underlying genetic causes of neurodevelopmental disorders by screening thousands of sequences in one experiment. We conclude by describing future directions of this technique such as applications of MPRA for gene-by-environment interactions and pharmacogenetics. En ligne : https://dx.doi.org/10.1186/s11689-022-09461-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Focus on your locus with a massively parallel reporter assay [texte imprimé] / Jessica C. MCAFEE, Auteur ; Jessica L. BELL, Auteur ; Oleh KRUPA, Auteur ; Nana MATOBA, Auteur ; Jason L. STEIN, Auteur ; Hyejung WON, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Gene Expression Regulation  Genome-Wide Association Study  High-Throughput Nucleotide Sequencing/methods  Humans  Regulatory Sequences, Nucleic Acid  Functional validation  Gwas  Gene regulation  Gene-environment interactions  Mpra  Neurodevelopmental disorders  Noncoding genome  Posttranscriptional regulation  Wgs Index. décimale : PER Périodiques Résumé : A growing number of variants associated with risk for neurodevelopmental disorders have been identified by genome-wide association and whole genome sequencing studies. As common risk variants often fall within large haplotype blocks covering long stretches of the noncoding genome, the causal variants within an associated locus are often unknown. Similarly, the effect of rare noncoding risk variants identified by whole genome sequencing on molecular traits is seldom known without functional assays. A massively parallel reporter assay (MPRA) is an assay that can functionally validate thousands of regulatory elements simultaneously using high-throughput sequencing and barcode technology. MPRA has been adapted to various experimental designs that measure gene regulatory effects of genetic variants within cis- and trans-regulatory elements as well as posttranscriptional processes. This review discusses different MPRA designs that have been or could be used in the future to experimentally validate genetic variants associated with neurodevelopmental disorders. Though MPRA has limitations such as it does not model genomic context, this assay can help narrow down the underlying genetic causes of neurodevelopmental disorders by screening thousands of sequences in one experiment. We conclude by describing future directions of this technique such as applications of MPRA for gene-by-environment interactions and pharmacogenetics. En ligne : https://dx.doi.org/10.1186/s11689-022-09461-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

---

1 (1 - 1 / 1) Par page : 25 50 100 200