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Article
Open AccessThe molecular origin and taxonomy of mucinous ovarian carcinoma
Mucinous ovarian carcinoma (MOC) is a unique subtype of ovarian cancer with an uncertain etiology, including whether it genuinely arises at the ovary or is metastatic disease from other organs. In addition, th...
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Article
Mutations in RECQL are not associated with breast cancer risk in an Australian population
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Article
Open AccessEvaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs
Genome-wide association studies (GWASs) have identified numerous single-nucleotide polymorphisms (SNPs) associated with small increases in breast cancer risk. Studies to date suggest that some SNPs alter the e...
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Article
Open AccessInferring copy number and genotype in tumour exome data
Using whole exome sequencing to predict aberrations in tumours is a cost effective alternative to whole genome sequencing, however is predominantly used for variant detection and infrequently utilised for dete...
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Article
Open AccessErratum to: CoNVEX: copy number variation estimation in exome sequencing data using HMM
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Article
Open AccessCoNVEX: copy number variation estimation in exome sequencing data using HMM
One of the main types of genetic variations in cancer is Copy Number Variations (CNV). Whole exome sequenicng (WES) is a popular alternative to whole genome sequencing (WGS) to study disease specific genomic v...