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Evaluation of somatic copy number estimation tools for whole-exome sequencing data
CNV prediction Somatic alterations The Cancer Genome Atlas CNV algorithms
2016/1/26
Evaluation of somatic copy number estimation tools for whole-exome sequencing data.
Evaluation of somatic copy number estimation tools for whole-exome sequencing data
CNV prediction Somatic alterations The Cancer Genome Atlas CNV algorithms
2016/1/20
Evaluation of somatic copy number estimation tools for whole-exome sequencing data.
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...
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...