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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...
H3M2:detection of runs of homozygosity from whole-exome sequencing data
H3M2 runs of homozygosity whole-exome sequencing data
2015/5/5
Motivation: Runs of homozygosity (ROH) are sizable chromosomal stretches of homozygous genotypes, ranging in length from tens of kilobases to megabases. ROHs can be relevant for population and medical...