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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
GenomicsMalariaGEN data access committee
Access to individual-level genotype data is available by application to the MalariaGEN Independent Data Access Committee. Access to data will be granted to qualified investigators for appropriate use. For further information information on data release policy and data access application form, please...
EGAC00000000002 | EGA
TranscriptomicsTranscription profiling by array of rat liver from recombinant inbred strains derived from BN and SHR rats
We aimed to identify gene expression profiles/differences between spontaneously hypertensive rat(SHR) and normotensive rat (BN) in a set of recombinant inbred (RI) strains.
ORGANISM(S): Rattus norvegicus 
2011-07-12 | E-MTAB-323 | biostudies-arrayexpress
TranscriptomicsTranscription profiling by array of rat aorta from recombinant inbred strains derived from BN and SHR rats
We aimed to identify gene expression profiles/differences between spontaneously hypertensive rat(SHR) and normotensive rat (BN) in a set of recombinant inbred (RI) strains.
ORGANISM(S): Rattus norvegicus 
2011-07-12 | E-MTAB-322 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of skeletal muscle tissue from spontaneously hypertensive rats and normotensive rats in a set of recombinant inbred strains
We aimed to identify gene expression profiles/differences between spontaneously hypertensive rat(SHR) and normotensive rat (BN) in a set of recombinant inbred (RI) strains.
ORGANISM(S): Rattus norvegicus 
2008-04-15 | E-TABM-458 | biostudies-arrayexpress
GenomicsSMG
Severe malaria cases from Gambia
EGAD00000000018 | EGA
GenomicsCBC
Cord blood control samples from Gambia
EGAD00000000017 | EGA
GenomicsMalariaGEN case-control study in the Gambia
MalariaGEN case-control study in the Gambia.
EGAS00000000026 | 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
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