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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...
Genotypes at MITF E318K variant
Genotypes at MITF E318K variant
Access to data generated by the MELARISK is available by emailing application to the data access committee and will be granted to qualified investigators for appropriate use.
Genomewide association studies (GWAS) have proven a powerful hypothesis-free method to identify common disease-associated variants. Even quite large GWAS, however, have only at best identified moderate proportions of the genetic variants contributing to disease heritability. To provide cost-effectiv...
A recent study of the characteristics of coexisting melanoma and renal cell carcinoma RCC in the same patients supports a genetic predisposition underlying the association between these two cancers. The microphthalmia associated transcription factor (MITF) was proposed to act as a melanoma oncogene;...
ORGANISM(S): Homo sapiens 
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