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Whole exome sequencing in patients with ALS and concomitant FTD lacking the C9orf72 repeat expansion

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are part of a clinical, pathological and genetic continuum. The purpose of the present study was to assess the mutation burden that is present in ALS and/or FTD known disease-causing genes in 54 patients (16 with available postmortem neuropathological diagnosis) with concurrent ALS and FTD (ALS/FTD) not-carrying the C9orf72 hexanucleotide repeat expansion, the most important genetic cause in both diseases.

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Whole exome sequencing in patients with ALS and concomitant FTD lacking the C9orf72 repeat expansion

Dr. Jordi Clarimón intends to publish the results of their analysis of this dataset and do not consider its deposition into public databases to be the equivalent of such publications. Dr. Jordi Clarimón anticipates that the dataset could be useful to other qualified researchers for a variety of purposes. However, some areas of work are subject to a publication moratorium. The publication moratorium covers any publications (including oral communications) that describe the use of the dataset. For research papers, submission for publication should not occur until 3 months after these data were first made available on the relevant hosting database, unless Dr. Jordi Clarimón has provided written consent to earlier submission. In any publications based on these data, please describe how the data can be accessed, including the name of the hosting database (e.g., The European Genome-phenome Archive at the European Bioinformatics Institute) and its accession numbers (EGAS00001002439), and acknowledge its use in a form agreed by the User Institution with Dr. Jordi Clarimón and Dr. Oriol Dols-Icardo. And cite the relevant primary publication: Dols-Icardo O. et al., Brain. (2017) XXXXXXXX

Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001002439 Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Quality Report
Located in
i
EGAF00001682061 fastq.gz 2.7 GB Report
EGAF00001682062 fastq.gz 2.7 GB Report
EGAF00001682063 fastq.gz 2.6 GB Report
EGAF00001682064 fastq.gz 2.6 GB Report
EGAF00001682065 fastq.gz 2.4 GB Report
EGAF00001682066 fastq.gz 2.4 GB Report
EGAF00001682067 fastq.gz 2.4 GB Report
EGAF00001682068 fastq.gz 2.4 GB Report
EGAF00001682069 fastq.gz 2.5 GB Report
EGAF00001682070 fastq.gz 2.5 GB Report
EGAF00001682071 fastq.gz 2.5 GB Report
EGAF00001682072 fastq.gz 2.6 GB Report
EGAF00001682073 fastq.gz 2.6 GB Report
EGAF00001682074 fastq.gz 2.6 GB Report
EGAF00001682075 fastq.gz 2.5 GB Report
EGAF00001682076 fastq.gz 2.5 GB Report
EGAF00001682077 fastq.gz 2.5 GB Report
EGAF00001682078 fastq.gz 2.5 GB Report
EGAF00001682079 fastq.gz 2.4 GB Report
EGAF00001682080 fastq.gz 2.4 GB Report
EGAF00001682081 fastq.gz 2.5 GB Report
EGAF00001682082 fastq.gz 2.5 GB Report
EGAF00001682083 fastq.gz 2.5 GB Report
EGAF00001682084 fastq.gz 2.5 GB Report
EGAF00001682085 fastq.gz 2.4 GB Report
EGAF00001682086 fastq.gz 2.4 GB Report
EGAF00001682087 fastq.gz 2.4 GB Report
EGAF00001682088 fastq.gz 2.4 GB Report
EGAF00001682089 fastq.gz 2.6 GB Report
EGAF00001682090 fastq.gz 2.7 GB Report
EGAF00001682091 fastq.gz 2.2 GB Report
EGAF00001682092 fastq.gz 2.2 GB Report
EGAF00001682093 fastq.gz 2.4 GB Report
EGAF00001682094 fastq.gz 2.4 GB Report
EGAF00001682095 fastq.gz 2.4 GB Report
EGAF00001682096 fastq.gz 2.4 GB Report
EGAF00001682097 fastq.gz 2.3 GB Report
EGAF00001682098 fastq.gz 2.3 GB Report
EGAF00001682099 fastq.gz 2.4 GB Report
EGAF00001682100 fastq.gz 2.4 GB Report
EGAF00001682101 fastq.gz 2.4 GB Report
EGAF00001682102 fastq.gz 2.4 GB Report
EGAF00001682103 fastq.gz 2.4 GB Report
EGAF00001682104 fastq.gz 2.4 GB Report
EGAF00001682105 fastq.gz 2.6 GB Report
EGAF00001682106 fastq.gz 2.6 GB Report
EGAF00001682107 fastq.gz 2.6 GB Report
EGAF00001682108 fastq.gz 2.6 GB Report
EGAF00001682109 fastq.gz 2.7 GB Report
EGAF00001682110 fastq.gz 2.7 GB Report
EGAF00001682111 fastq.gz 2.5 GB Report
EGAF00001682112 fastq.gz 2.5 GB Report
EGAF00001682113 fastq.gz 2.4 GB Report
EGAF00001682114 fastq.gz 2.4 GB Report
EGAF00001682115 fastq.gz 2.6 GB Report
EGAF00001682116 fastq.gz 2.6 GB Report
EGAF00001682117 fastq.gz 2.5 GB Report
EGAF00001682118 fastq.gz 2.5 GB Report
EGAF00001682119 fastq.gz 2.3 GB Report
EGAF00001682120 fastq.gz 2.3 GB Report
EGAF00001682121 fastq.gz 2.2 GB Report
EGAF00001682122 fastq.gz 2.2 GB Report
EGAF00001682123 fastq.gz 2.2 GB Report
EGAF00001682124 fastq.gz 2.3 GB Report
EGAF00001682125 fastq.gz 2.3 GB Report
EGAF00001682126 fastq.gz 2.3 GB Report
EGAF00001682127 fastq.gz 2.3 GB Report
EGAF00001682128 fastq.gz 2.3 GB Report
EGAF00001682129 fastq.gz 2.3 GB Report
EGAF00001682130 fastq.gz 2.3 GB Report
EGAF00001682131 fastq.gz 2.2 GB Report
EGAF00001682132 fastq.gz 2.3 GB Report
EGAF00001682133 fastq.gz 2.5 GB Report
EGAF00001682134 fastq.gz 2.5 GB Report
EGAF00001682135 fastq.gz 2.5 GB Report
EGAF00001682136 fastq.gz 2.5 GB Report
EGAF00001682137 fastq.gz 2.2 GB Report
EGAF00001682138 fastq.gz 2.3 GB Report
EGAF00001682139 fastq.gz 2.4 GB Report
EGAF00001682140 fastq.gz 2.4 GB Report
EGAF00001682141 fastq.gz 2.5 GB Report
EGAF00001682142 fastq.gz 2.5 GB Report
EGAF00001682143 fastq.gz 2.5 GB Report
EGAF00001682144 fastq.gz 2.5 GB Report
EGAF00001682145 fastq.gz 2.5 GB Report
EGAF00001682146 fastq.gz 2.4 GB Report
EGAF00001682147 fastq.gz 2.4 GB Report
EGAF00001682148 fastq.gz 2.3 GB Report
EGAF00001682149 fastq.gz 2.3 GB Report
EGAF00001682150 fastq.gz 2.2 GB Report
EGAF00001682151 fastq.gz 2.3 GB Report
EGAF00001682152 fastq.gz 2.2 GB Report
EGAF00001682153 fastq.gz 2.8 GB Report
EGAF00001682154 fastq.gz 2.7 GB Report
EGAF00001682155 fastq.gz 2.4 GB Report
EGAF00001682156 fastq.gz 2.4 GB Report
EGAF00001682157 fastq.gz 2.5 GB Report
EGAF00001682158 fastq.gz 2.5 GB Report
EGAF00001682159 fastq.gz 2.5 GB Report
EGAF00001682160 fastq.gz 2.5 GB Report
EGAF00001682161 fastq.gz 2.3 GB Report
EGAF00001682162 fastq.gz 2.2 GB Report
EGAF00001682163 fastq.gz 2.4 GB Report
EGAF00001682164 fastq.gz 2.3 GB Report
EGAF00001682165 fastq.gz 2.5 GB Report
EGAF00001682166 fastq.gz 2.5 GB Report
EGAF00001682167 fastq.gz 2.2 GB Report
EGAF00001682168 fastq.gz 2.1 GB Report
108 Files (262.5 GB)