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The development of whole genome association studies from the general population has lead to the robust identification of several loci involved in different common human diseases. Interestingly, most of the strongest signals of association observed in these studies arise from non-coding regions, rais...
ORGANISM(S): Homo sapiens 
IMR-32 cells were infected either with control-shRNA or one of two different AURKA-shRNA vectors to identify genes regulated after AURKA knockdown.
ORGANISM(S): Homo sapiens 
The datasets includes 21 samples from 7 families with Bosma arhinia microphthalmia (BAMS). For details of the study please refer to the manuscript "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development", Nature Genetics 2017. Each sample was exome seq...
Whole exome sequencing data for patients with Bosma arhinia microphthalmia syndrome (BAMS). The dataset includes 21 samples from 7 families with BAMS; see Gordon et al, Nature Genetics, 2017.
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