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TranscriptomicsRNA-seq of INPP5E mutant cortical organoids against control organoids
Primary cilia act as antennas in cell-cell signalling and are crucial for nervous system development. We explored their role in the development of the human cerebral cortex using organoids defective for the ciliary gene INPP5E. We investigated the transcription profile of control and INPP5ED477N/D47...
ORGANISM(S): Homo sapiens 
2022-06-06 | E-MTAB-11437 | biostudies-arrayexpress
UnknownCysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
Not available
S-EPMC6407526 | biostudies-literature
Genomicsena-DATASET-DTU-19-07-2017-19:09:46:884-206 - samples
The MHC vcf call set was generated using a modified AsmVar and BayesTyper pipeline. In contrast to the original pipeline, where variant calling is performed using alignment of collapsed assemblies to a reference genome, the MHC call set was produced using alignment of phased MHC haplotypes. Two iter...
EGAD00001003455 | EGA
Genomicsena-DATASET-DTU-20-02-2017-20:47:48:841-649 - samples
Variants on the Y chromosome for 62 danish males in VCF format from the GenomeDenmark Phase 2 cohort. Variants were called using reference based approaches such as the haplotype-caller module from GATK and using alignment of denovo assemblies to the reference using ASMvar.
EGAD00001003186 | EGA
Genomicsena-DATASET-DTU-01-02-2017-10:47:25:397-764 - samples
Alignment of Genome Denmark Phase II dataset to GRCh38. The dataset consists of 150 Danish individuals (50 trios) sequenced to 80X. The BAM-file contains data from multiple libraries created from one individual with libraries of 180, 500, 800, 2000, 5000, 10000 and 20000 bp. The libraries were creat...
EGAD00001003157 | EGA
Genomicsena-DATASET-DTU-19-07-2017-17:57:54:089-201 - samples
Validation of HLA variation of 8 individuals from the GenomeDenmark Phase 2 study. Validation is performed Sanger sequencing of selected amplicons (5-10 amplicons per sample).
EGAD00001003454 | EGA
Genomicsena-DATASET-DTU-22-02-2017-08:21:35:017-10 - samples
Variants and genotypes called in 50 danish parent-offspring trios from 80x Illumina sequencing data using BayesTyper. Data was produced using different insert size libraries of the sizes 180, 500, 800, 2000, 5000, 10000 and 20000 bp. The sample IDs for the fathers and mothers are TrioID-01 and TrioI...
EGAD00001003188 | EGA
GenomicsDe novo assembly of 150 Danish genomes reveals rich structural complexity
Most known genetic variation in human genomes has been called from comparison of short reads to the reference genome, an approach biased against finding complex variation. We sequenced 150 individuals from 50 parent-offspring trios with multiple insert-size libraries to very high coverage. We show t...
EGAS00001002108 | EGA
GenomicsThe Danish Reference Genome - GenomeDenmark data access committee
Data Access Committee EGAC00001000562
EGAC00001000562 | EGA
UnknownFine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.
Not available
S-EPMC4380767 | biostudies-literature
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