Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancerGenomic DNA pooling strategy for next-generation sequencing-based rare variant discovery in abdominal aortic aneurysm regions of interest-challenges and limitationsDiscovery of variants unmasked by hemizygous deletionsMultiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencingConstitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanismsDominant missense mutations in ABCC9 cause Cantu syndromeX-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face
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I. Renkens