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.
"I have previously used Alamut Visual in the UK and it is an invaluable resource for variant curation which I was keen to bring into use in my new role in New Zealand. provides a convenient and user-friendly interface which pulls together literature searches, population databases and in silico prediction tools. This enables streamlining of the curation process and saves a lot of time."
JO MARTINDALE
Wellington Regional Genetics Laboratory, Wellington, New Zealand
