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UnknownNovel early-onset Alzheimer-associated genes influence risk through dysregulation of glutamate, immune activation, and intracellular signaling pathways.
Not available
S-EPMC12187977 | biostudies-literature
GenomicsGAW16 Framingham and Simulated Data

Important links to apply for individual-level data

  1. Genetic Analysis Workshop
  2. Instructions to Request Authorized Access
phs000128.v3.p3 | EGA
TranscriptomicsIsolation of a Novel Rat Neural Progenitor Clone that Expresses Dlx Family Transcription Factors and Gives Rise to Functional GABAergic Neurons in Culture
GABAergic interneurons are lost in conditions including epilepsy and CNS injury, but there are few culture models available to study their function. Towards the goal of obtaining renewable sources of GABAergic neurons, we used the molecular profile of a functionally-incomplete GABAergic precursor c...
ORGANISM(S): Rattus norvegicus 
2011-11-09 | E-GEOD-31635 | biostudies-arrayexpress
GenomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

We conducted whole-genome sequencing of probands from several melanoma families, identifying one individual carrying a novel germline variant (c.G1075A, NM_000248.3; p.E318K, NP_000239.1; rs149617956) in the melanoma lineage-specific oncogene MITF. While the variant cosegregated with melanoma in ...

phs000419.v1.p1 | EGA
TranscriptomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
We identified a novel germline mutation of the microphthalmia-associated transcription factor (MITF - E318K). This mutation was found to be present in numerous melanoma families, as well as the general population, where its association with melanoma has a significant effect. We determined the effe...
ORGANISM(S): Homo sapiens 
2011-12-01 | E-GEOD-31269 | biostudies-arrayexpress
UnknownTHEM6-mediated reprogramming of lipid metabolism supports treatment resistance in prostate cancer
Not available
S-SCDT-EMM-2021-14764 | biostudies-other
Genomicsena-DATASET-UNIBE-07-04-2016-07:41:15:505-596 - samples
Mapped data (bam files) for high-throughput whole genome sequence data for 83 modern Aboriginal Australians
EGAD00001002001 | EGA
Genomics37a30206-29b3-47a0-90c4-eee326fe5b8b - samples
Genotype calls for 83 Aboriginal Australian genomes split by chromosomes. In short, genotypes were called individually with samtools. They were subsequently filtered with thresholds related to sequencing depth, location of variants, sequencing error, and strand bias. Once combined, the genotypes wer...
EGAD00001004155 | EGA
GenomicsRFMix
This dataset contains the per-chromosome RFMix input and output files for the local ancestry inference of 59 Aboriginal Australian genomes as reported in Malaspinas et al., 2016. Local ancestry was inferred assuming four mixing ancestral populations represented by: Europeans (27 individuals), Asians...
EGAD00010001575 | EGA
GenomicsMT alignment
Alignement including 83 MT AA sequences and 2 reference sequences, rCRS and RSRS
EGAD00010001574 | EGA
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