Article
Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection.
Genome research - 1 Jan 2018
Popadin Konstantin, Peischl Stephan, Garieri Marco, Sailani M Reza, Letourneau Audrey, Santoni Federico, Lukowski Samuel W, Bazykin Georgii A, Nikolaev Sergey, Meyer Diogo, Excoffier Laurent, Reymond Alexandre, Antonarakis Stylianos E
Abstract excerpt
The majority of aneuploid fetuses are spontaneously miscarried. Nevertheless, some aneuploid individuals survive despite the strong genetic insult. Here, we investigate if the survival probability of aneuploid fetuses is affected by the genome-wide burden of slightly deleterious variants. We analyzed two cohorts of live-born Down syndrome individuals (388 genotyped samples and 16 fibroblast transcriptomes) and...
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