[HTML][HTML] Somatic mosaicism in the human genome
D Freed, EL Stevens, J Pevsner - Genes, 2014 - mdpi.com
Somatic mosaicism refers to the occurrence of two genetically distinct populations of cells
within an individual, derived from a postzygotic mutation. In contrast to inherited mutations …
within an individual, derived from a postzygotic mutation. In contrast to inherited mutations …
Early events in the molecular pathogenesis of lung cancer
The majority of cancer-related deaths in the United States and worldwide are attributed to
lung cancer. There are more than 90 million smokers in the United States who represent a …
lung cancer. There are more than 90 million smokers in the United States who represent a …
[HTML][HTML] Overcoming therapeutic resistance in HER2-positive breast cancers with CDK4/6 inhibitors
Using transgenic mouse models, cell line-based functional studies, and clinical specimens,
we show that cyclin D1/CDK4 mediate resistance to targeted therapy for HER2-positive …
we show that cyclin D1/CDK4 mediate resistance to targeted therapy for HER2-positive …
Absolute quantification of somatic DNA alterations in human cancer
We describe a computational method that infers tumor purity and malignant cell ploidy
directly from analysis of somatic DNA alterations. The method, named ABSOLUTE, can …
directly from analysis of somatic DNA alterations. The method, named ABSOLUTE, can …
Integrative analysis of genome-wide loss of heterozygosity and monoallelic expression at nucleotide resolution reveals disrupted pathways in triple-negative breast …
Loss of heterozygosity (LOH) and copy number alteration (CNA) feature prominently in the
somatic genomic landscape of tumors. As such, karyotypic aberrations in cancer genomes …
somatic genomic landscape of tumors. As such, karyotypic aberrations in cancer genomes …
[HTML][HTML] High-definition reconstruction of clonal composition in cancer
The extensive genetic heterogeneity of cancers can greatly affect therapy success due to the
existence of subclonal mutations conferring resistance. However, the characterization of …
existence of subclonal mutations conferring resistance. However, the characterization of …
[HTML][HTML] Inferring copy number and genotype in tumour exome data
KC Amarasinghe, J Li, SM Hunter, GL Ryland… - BMC genomics, 2014 - Springer
Background Using whole exome sequencing to predict aberrations in tumours is a cost
effective alternative to whole genome sequencing, however is predominantly used for …
effective alternative to whole genome sequencing, however is predominantly used for …
Genome‐wide analysis of somatic copy number alterations and chromosomal breakages in osteosarcoma
J Smida, H Xu, Y Zhang, D Baumhoer… - … journal of cancer, 2017 - Wiley Online Library
Osteosarcoma (OS) is the most common primary malignant bone tumor in children and
adolescents. It is characterized by highly complex karyotypes with structural and numerical …
adolescents. It is characterized by highly complex karyotypes with structural and numerical …
[HTML][HTML] HATCHet2: clone-and haplotype-specific copy number inference from bulk tumor sequencing data
Bulk DNA sequencing of multiple samples from the same tumor is becoming common, yet
most methods to infer copy-number aberrations (CNAs) from this data analyze individual …
most methods to infer copy-number aberrations (CNAs) from this data analyze individual …
[HTML][HTML] Unraveling the clonal hierarchy of somatic genomic aberrations
Defining the chronology of molecular alterations may identify milestones in carcinogenesis.
To unravel the temporal evolution of aberrations from clinical tumors, we developed …
To unravel the temporal evolution of aberrations from clinical tumors, we developed …