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Perhaps the central problem in understanding color appearance is that the only available measures are subjective. Much is now known about the neural mechanisms underlying the early encoding of color i...
Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment
Exome Sequencing Admixed Isolated Population NFXL1 Variants Specific Language Impairment
2015/5/13
Children affected by Specific Language Impairment (SLI) fail to acquire age appropriate language skills despite adequate intelligence and opportunity. SLI is highly heritable, but the understanding of...
Detection of Runs of Homozygosity from Whole Exome Sequencing Data: State of the Art and Perspectives for Clinical, Population and Epidemiological Studies
Exome sequencing Runs of homozygosity Homozygosity mapping
2015/5/5
Runs of homozygosity (ROH) are sizeable stretches of homozygous genotypes at consecutive polymorphic DNA marker positions, traditionally captured by means of genome-wide single nucleotide polymorphism...
The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population
Wilson disease genetic epidemiology consanguinity homozygosity index
2015/4/24
Wilson disease (WD) is an autosomal recessive disorder resulting in pathological progressive copper accumulation in liver and other tissues. The worldwide prevalence (P) is about 30/million, while in ...
Explaining the Linguistic Diversity of Sahul Using Population Models
Linguistic Diversity Sahul Using Population Models
2015/4/7
The region of the ancient Sahul continent (present day Australia and New Guinea, and surrounding islands) is home to extreme linguistic diversity. Even apart from the huge Austronesian language family...