<HashMap><database>GEO</database><file_versions><headers><Content-Type>application/xml</Content-Type></headers><body><files><Other>ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE295nnn/GSE295080/</Other></files><type>primary</type></body><statusCode>OK</statusCode><statusCodeValue>200</statusCodeValue></file_versions><scores/><additional><omics_type>Transcriptomics</omics_type><species> Escherichia coli</species><species> Mus musculus</species><species> Adeno-associated virus 9</species><species>Homo sapiens</species><gds_type>Expression profiling by high throughput sequencing</gds_type><full_dataset_link>https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE295080</full_dataset_link><repository>GEO</repository><entry_type>GSE</entry_type></additional><is_claimable>false</is_claimable><name>Disambiguating Transcriptional Effects from Post-Transcriptional Effects of Genetic Variants with an Inferred Stability Optimized Massively Parallel Reporter Assay (ISOMPRA).</name><description>Some widely used methods to study functional effects of DNA sequence on transcription cannot readily disambiguate these from post-transcriptional impacts of the same element on RNA. Therefore, we developed an approach enabling assessment of DNA/RNA regulatory elements in parallel: Inferred Stability Optimized Massively Parallel Reporter Assay (ISOMPRA). ISOMPRA quantifies pre-spliced RNA to more directly assess transcription rate, and spliced RNA, corrected for transcription rate, to correctly identify RNA stability-altering 3’ UTR elements. We benchmark ISOMPRA with both predicted enhancers and 3’ UTR elements, selected regions containing autism patient mutations. We identify numerous functional enhancers/UTRs, and discover a subset with high impact mutations. We further show failing to consider both potential transcriptional and post transcriptional effects results in numerous false-positives and false-negatives. Finally, we adapt ISOMPRA for in vivo analysis of element effects via AAV transduction. Combined with Cre-dependent priming sites, this permits analyses of both transcriptional and post-transcriptional effects within specific cell types of the brain, and further enables measurement of regulatory impacts of in vivo traits, such as sex.</description><dates><publication>2025/12/12</publication></dates><accession>GSE295080</accession><cross_references><GSM>GSM8941903</GSM><GSM>GSM8941902</GSM><GSM>GSM8941905</GSM><GSM>GSM8941904</GSM><GSM>GSM8941901</GSM><GSM>GSM8941900</GSM><GSM>GSM9188122</GSM><GSM>GSM9188123</GSM><GSM>GSM9188124</GSM><GSM>GSM9188125</GSM><GSM>GSM9188126</GSM><GSM>GSM9188127</GSM><GSM>GSM9188128</GSM><GSM>GSM9188129</GSM><GSM>GSM9188120</GSM><GSM>GSM9188121</GSM><GSM>GSM9188119</GSM><GSM>GSM9188133</GSM><GSM>GSM9188134</GSM><GSM>GSM9188135</GSM><GSM>GSM9188136</GSM><GSM>GSM9188137</GSM><GSM>GSM9188138</GSM><GSM>GSM9188139</GSM><GSM>GSM9188130</GSM><GSM>GSM9188131</GSM><GSM>GSM9188132</GSM><GSM>GSM8941899</GSM><GSM>GSM8941898</GSM><GSM>GSM8941895</GSM><GSM>GSM8941894</GSM><GSM>GSM8941897</GSM><GSM>GSM8941896</GSM><GSM>GSM8941891</GSM><GSM>GSM8941890</GSM><GSM>GSM8941893</GSM><GSM>GSM8941892</GSM><GSM>GSM8942064</GSM><GSM>GSM8942062</GSM><GSM>GSM8942063</GSM><GSM>GSM8942060</GSM><GSM>GSM8942061</GSM><GSM>GSM8941877</GSM><GSM>GSM8941998</GSM><GSM>GSM8941876</GSM><GSM>GSM8941997</GSM><GSM>GSM8941879</GSM><GSM>GSM8941999</GSM><GSM>GSM8941878</GSM><GSM>GSM8941873</GSM><GSM>GSM8941994</GSM><GSM>GSM8941993</GSM><GSM>GSM8941872</GSM><GSM>GSM8941996</GSM><GSM>GSM8942048</GSM><GSM>GSM8941875</GSM><GSM>GSM8941874</GSM><GSM>GSM8942049</GSM><GSM>GSM8941995</GSM><GSM>GSM8941990</GSM><GSM>GSM8942046</GSM><GSM>GSM8942047</GSM><GSM>GSM8941871</GSM><GSM>GSM8941992</GSM><GSM>GSM8942044</GSM><GSM>GSM8941870</GSM><GSM>GSM8941991</GSM><GSM>GSM8942045</GSM><GSM>GSM8942042</GSM><GSM>GSM8942043</GSM><GSM>GSM8942040</GSM><GSM>GSM8942041</GSM><GSM>GSM8941888</GSM><GSM>GSM8941887</GSM><GSM>GSM8941889</GSM><GSM>GSM8941884</GSM><GSM>GSM8941883</GSM><GSM>GSM8942059</GSM><GSM>GSM8941886</GSM><GSM>GSM8941885</GSM><GSM>GSM8942057</GSM><GSM>GSM8941880</GSM><GSM>GSM8942058</GSM><GSM>GSM8941882</GSM><GSM>GSM8942055</GSM><GSM>GSM8941881</GSM><GSM>GSM8942056</GSM><GSM>GSM8942053</GSM><GSM>GSM8942054</GSM><GSM>GSM8942051</GSM><GSM>GSM8942052</GSM><GSM>GSM8942050</GSM><GSM>GSM8941859</GSM><GSM>GSM8941858</GSM><GSM>GSM8941979</GSM><GSM>GSM8941976</GSM><GSM>GSM8941855</GSM><GSM>GSM8941854</GSM><GSM>GSM8941975</GSM><GSM>GSM8941857</GSM><GSM>GSM8941978</GSM><GSM>GSM8941856</GSM><GSM>GSM8941977</GSM><GSM>GSM8942028</GSM><GSM>GSM8941851</GSM><GSM>GSM8941972</GSM><GSM>GSM8941850</GSM><GSM>GSM8941971</GSM><GSM>GSM8942029</GSM><GSM>GSM8941853</GSM><GSM>GSM8941974</GSM><GSM>GSM8942026</GSM><GSM>GSM8942027</GSM><GSM>GSM8941973</GSM><GSM>GSM8941852</GSM><GSM>GSM8942024</GSM><GSM>GSM8942025</GSM><GSM>GSM8941970</GSM><GSM>GSM8942022</GSM><GSM>GSM8942023</GSM><GSM>GSM8942020</GSM><GSM>GSM8942021</GSM><GSM>GSM8941869</GSM><GSM>GSM8941987</GSM><GSM>GSM8941866</GSM><GSM>GSM8941986</GSM><GSM>GSM8941865</GSM><GSM>GSM8941989</GSM><GSM>GSM8941868</GSM><GSM>GSM8941867</GSM><GSM>GSM8941988</GSM><GSM>GSM8942039</GSM><GSM>GSM8941983</GSM><GSM>GSM8941862</GSM><GSM>GSM8941861</GSM><GSM>GSM8941982</GSM><GSM>GSM8941864</GSM><GSM>GSM8941985</GSM><GSM>GSM8942037</GSM><GSM>GSM8941984</GSM><GSM>GSM8941863</GSM><GSM>GSM8942038</GSM><GSM>GSM8942035</GSM><GSM>GSM8942036</GSM><GSM>GSM8942033</GSM><GSM>GSM8941860</GSM><GSM>GSM8941981</GSM><GSM>GSM8942034</GSM><GSM>GSM8941980</GSM><GSM>GSM8942031</GSM><GSM>GSM8942032</GSM><GSM>GSM8942030</GSM><GSM>GSM8941837</GSM><GSM>GSM8941958</GSM><GSM>GSM8941836</GSM><GSM>GSM8941957</GSM><GSM>GSM8941839</GSM><GSM>GSM8941838</GSM><GSM>GSM8941959</GSM><GSM>GSM8941954</GSM><GSM>GSM8941833</GSM><GSM>GSM8941953</GSM><GSM>GSM8941832</GSM><GSM>GSM8941956</GSM><GSM>GSM8942008</GSM><GSM>GSM8941835</GSM><GSM>GSM8941834</GSM><GSM>GSM8942009</GSM><GSM>GSM8941955</GSM><GSM>GSM8941950</GSM><GSM>GSM8942006</GSM><GSM>GSM8942007</GSM><GSM>GSM8942004</GSM><GSM>GSM8941831</GSM><GSM>GSM8941952</GSM><GSM>GSM8941830</GSM><GSM>GSM8942005</GSM><GSM>GSM8941951</GSM><GSM>GSM8942002</GSM><GSM>GSM8942003</GSM><GSM>GSM8942000</GSM><GSM>GSM8942001</GSM><GSM>GSM8941829</GSM><GSM>GSM8941848</GSM><GSM>GSM8941969</GSM><GSM>GSM8941847</GSM><GSM>GSM8941968</GSM><GSM>GSM8941849</GSM><GSM>GSM8941844</GSM><GSM>GSM8941965</GSM><GSM>GSM8941964</GSM><GSM>GSM8941843</GSM><GSM>GSM8941967</GSM><GSM>GSM8942019</GSM><GSM>GSM8941846</GSM><GSM>GSM8941845</GSM><GSM>GSM8941966</GSM><GSM>GSM8942017</GSM><GSM>GSM8941840</GSM><GSM>GSM8941961</GSM><GSM>GSM8941960</GSM><GSM>GSM8942018</GSM><GSM>GSM8941842</GSM><GSM>GSM8941963</GSM><GSM>GSM8942015</GSM><GSM>GSM8941841</GSM><GSM>GSM8941962</GSM><GSM>GSM8942016</GSM><GSM>GSM8942013</GSM><GSM>GSM8942014</GSM><GSM>GSM8942011</GSM><GSM>GSM9188099</GSM><GSM>GSM8942012</GSM><GSM>GSM8942010</GSM><GSM>GSM8941936</GSM><GSM>GSM9188100</GSM><GSM>GSM8941815</GSM><GSM>GSM9188101</GSM><GSM>GSM8941935</GSM><GSM>GSM8941814</GSM><GSM>GSM9188102</GSM><GSM>GSM8941938</GSM><GSM>GSM8941817</GSM><GSM>GSM8941816</GSM><GSM>GSM8941937</GSM><GSM>GSM9188103</GSM><GSM>GSM9188104</GSM><GSM>GSM8941811</GSM><GSM>GSM8941932</GSM><GSM>GSM8941810</GSM><GSM>GSM8941931</GSM><GSM>GSM9188105</GSM><GSM>GSM8941813</GSM><GSM>GSM8941934</GSM><GSM>GSM9188106</GSM><GSM>GSM8941933</GSM><GSM>GSM9188107</GSM><GSM>GSM8941812</GSM><GSM>GSM8941930</GSM><GSM>GSM8941929</GSM><GSM>GSM8941928</GSM><GSM>GSM8941809</GSM><GSM>GSM8941947</GSM><GSM>GSM8941826</GSM><GSM>GSM9188111</GSM><GSM>GSM9188112</GSM><GSM>GSM8941825</GSM><GSM>GSM8941946</GSM><GSM>GSM9188113</GSM><GSM>GSM8941828</GSM><GSM>GSM8941949</GSM><GSM>GSM8941827</GSM><GSM>GSM8941948</GSM><GSM>GSM9188114</GSM><GSM>GSM9188115</GSM><GSM>GSM8941822</GSM><GSM>GSM8941943</GSM><GSM>GSM8941821</GSM><GSM>GSM9188116</GSM><GSM>GSM8941942</GSM><GSM>GSM8941824</GSM><GSM>GSM8941945</GSM><GSM>GSM9188117</GSM><GSM>GSM8941944</GSM><GSM>GSM9188118</GSM><GSM>GSM8941823</GSM><GSM>GSM8941941</GSM><GSM>GSM8941820</GSM><GSM>GSM8941940</GSM><GSM>GSM9188110</GSM><GSM>GSM9188108</GSM><GSM>GSM9188109</GSM><GSM>GSM8941819</GSM><GSM>GSM8941818</GSM><GSM>GSM8941939</GSM><GSM>GSM8941914</GSM><GSM>GSM8941913</GSM><GSM>GSM8941916</GSM><GSM>GSM8941915</GSM><GSM>GSM8941910</GSM><GSM>GSM8941912</GSM><GSM>GSM8941911</GSM><GSM>GSM8941907</GSM><GSM>GSM8941906</GSM><GSM>GSM8941909</GSM><GSM>GSM8941908</GSM><GSM>GSM8941925</GSM><GSM>GSM8941924</GSM><GSM>GSM8941927</GSM><GSM>GSM8941926</GSM><GSM>GSM8941921</GSM><GSM>GSM8941920</GSM><GSM>GSM8941923</GSM><GSM>GSM8941922</GSM><GSM>GSM8941918</GSM><GSM>GSM8941917</GSM><GSM>GSM8941919</GSM><GPL>35777</GPL><GPL>35101</GPL><GPL>34281</GPL><GPL>34328</GPL><GSE>295080</GSE><taxon> Escherichia coli</taxon><taxon> Mus musculus</taxon><taxon> Adeno-associated virus 9</taxon><taxon>Homo sapiens</taxon></cross_references></HashMap>