6 Result(s)

Article

The 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...

Dane Cheasley, Matthew J. Wakefield, Georgina L. Ryland… in Nature Communications (2019)

Article

Evaluating 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...

Na Li, Simone M. Rowley, Ella R. Thompson, Simone McInerny… in Breast Cancer Research (2018)

Article

Inferring 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...

Kaushalya C Amarasinghe, Jason Li, Sally M Hunter, Georgina L Ryland… in BMC Genomics (2014)

Article

Erratum to: CoNVEX: copy number variation estimation in exome sequencing data using HMM

Kaushalya C Amarasinghe, Jason Li, Saman K Halgamuge in BMC Bioinformatics (2013)

Article

CoNVEX: 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...

Kaushalya C Amarasinghe, Jason Li, Saman K Halgamuge in BMC Bioinformatics (2013)