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