Detection of APC mosaicism by next-generation sequencing in an FAP patient

Familial Colorectal Cancer, Beyond Lynch Syndrome

(2013) Elena M. Stoffel et al.   Clinical Gastroenterology and Hepatology

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

The Promise and Challenges of Next-Generation Genome Sequencing for Clinical Care

(2013) Katherine A. Johansen Taber et al.   JAMA Internal Medicine

Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project

(2012) Leslie G. Biesecker   GENETICS IN MEDICINE

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

(2012) Claire Palles et al.   NATURE GENETICS

Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists

(2011) C Mongin et al.   CLINICAL GENETICS

Genotype-phenotype correlation in colorectal polyposis

(2011) KF Newton et al.   CLINICAL GENETICS

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

(2011) Alistair T Pagnamenta et al.   JOURNAL OF HUMAN GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Parallel sequencing used in detection of mosaic mutations: Comparison with four diagnostic DNA screening techniques

(2009) Anna Rohlin et al.   HUMAN MUTATION

Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families

(2008) Gunilla Kanter-Smoler et al.   BMC Medicine