Associated Papers
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
38734904 (PubMed )
Supplement: mmc2.xlsx › Table_S5
Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.
Deyell RJ et al.
Nature Communications, 2024
38755180 (PubMed )
Supplement: 41467_2024_48363_MOESM7_ESM.xlsx › Figure_2A__right_
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S5.LowCoverageVariantsExpPanel
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants
Genomics of lethal prostate cancer at diagnosis and castration resistance.
Mateo J et al.
The Journal of Clinical Investigation, 2020
31874108 (PubMed )
Supplement: jci-130-132031-s100.xlsx › Sheet1
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Ashktorab H et al.
Oncotarget, 2017
28002797 (PubMed )
Supplement: oncotarget-08-7852-s002.xlsx › APC.Illumina
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
Castellanos E et al.
Scientific Reports, 2017
28051113 (PubMed )
Supplement: srep39348-s1.pdf
The effect of a germline mutation in the APC gene on β-catenin in human embryonic stem cells.
Yedid N et al.
Bmc Cancer, 2016
High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.
Out AA et al.
Familial Cancer, 2015
25604157 (PubMed )
Supplement: 10689_2015_9780_MOESM1_ESM.docx
Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.
Prescott NJ et al.
Plos Genetics, 2015
25671699 (PubMed )
Supplement: pgen.1004955.s006.xlsx › SNVs
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants
Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization.
Kanter-Smoler G et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2006
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