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.
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