Manuel Tardaguila

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Sequencing projects have identified large numbers of rare stop-gain and frameshift variants in the human genome. As most of these are observed in the heterozygous state, they test a gene's tolerance to haploinsufficiency and dominant loss of function. We analyzed the distribution of truncating variants across 16,260 autosomal protein coding genes in 11,546(More)
Sequencing projects have identified large numbers of rare stop gain and frameshift variants in the human genome. Because most of these are observed in the heterozygous state, they test the genome's tolerance to dominant loss of function. We analyzed the distribution of truncating variants in 16818 protein coding autosomal genes from the exomes of 11546(More)
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