Roland Kuiper and colleagues conduct a whole-exome sequencing to individuals from families with multiple colonic adenomas, the premalignant precursors of colorectal cancer (CRC). They identified a homozygous germline nonsense mutation in the base-excision repair (BER) gene NTHL1 in three families with recessive inheritance of adenomatous polyposis.
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Weren, Robbert D. A. et al. Nature Genetics.
"We are very pleased with Alamut since it conveniently streamlines post-sequencing analyses of detected variants. We value the programme user friendliness and its all-in one approach to variant analysis."
PROF. MILAN MACEK Jr. M.D. Ph.D.
Charles University, Prague
