Project description:This RNA sequencing data set of 465 human lymphoblastoid cell line samples from the CEU, FIN, GBR, TSI and YRI populations from the 1000 Genomes sample collection was created by the Geuvadis consortium (www.geuvadis.org, http://www.geuvadis.org/web/geuvadis/our-rnaseq-project). The data is under embargo until the first publication by the investigators in early 2013. This accession contains small RNA sequencing data, and mRNA data from the same samples are available under accession E-GEUV-1.
Project description:This RNA sequencing data set of 465 human lymphoblastoid cell line samples from the CEU, FIN, GBR, TSI and YRI populations from the 1000 Genomes sample collection was created by the Geuvadis consortium (www.geuvadis.org, http://www.geuvadis.org/web/geuvadis/our-rnaseq-project). The data is under embargo until the first publication by the investigators in early 2013. This accession contains all mRNA and small RNA sequencing data, clean data that passed QC and other filters are available under accession E-GEUV-1, E-GEUV-2.
Project description:Re-analysis of 667 assays (463 samples) from Geuavdis study has been performed to demonstrate the flexibility of the Ballgown package to identify transcript-level eQTLs and identify non-linear artifacts in transcript data. Our package Ballgown is freely available from: https://github.com/alyssafrazee/ballgown. Geuvadis RNA sequencing data set of 465 human lymphoblastoid cell line samples from the CEU, FIN, GBR, TSI and YRI populations from the 1000 Genomes sample collection was created by the Geuvadis consortium (www.geuvadis.org, http://www.geuvadis.org/web/geuvadis/our-rnaseq-project). Original Geuvadis mRNA and small RNA sequencing data, clean data that passed QC and other filters, processed files and analysis results are available under accession E-GEUV-1, E-GEUV-2, E-GEUV-3.
Project description:Intellectual disability is a common condition that carries lifelong severe medical and developmental consequences. The causes of intellectual disability (ID) remain unknown for the majority of patients due to the extensive clinical and genetic heterogeneity of this disorder. De novo mutations may play an important role in ID as most individuals with ID present as isolated cases without family history and/or clear syndromic indication. In addition, the involvement of such mutations have recently been demonstrated in a small number of individuals with ID. Here we evaluate the diagnostic potential and role of de novo mutations in a cohort of 100 patients with ID of unknown cause using family-based exome sequencing. Single end short-read (50 bp) SOLiD 4 sequencing data for 300 individuals, constituting 100 patient-parent trios. For more details please read; http://www.nejm.org/doi/full/10.1056/NEJMoa1206524. Dataset is created by RUNMC (Radboud University, Nijmegen Medical Center), partner of Geuvadis consortium (http://www.geuvadis.org).
Project description:Pilot study Analysis of basal gene expression of the protective bones of the skull (parietals), weight-bearing bones of the limb (ulnae) and mandibular bone and teeth