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TrAp: a tree approach for fingerprinting subclonal tumor composition
Revealing the clonal composition of a single tumor is essential for identifying cell subpopulations with metastatic potential in primary tumors or with resistance to therapies in metastatic tumors....
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Accurate Local-Ancestry Inference in Exome-Sequenced Admixed Individuals via...
Estimates of the ancestry of specific chromosomal regions in admixed individuals are useful for studies of human evolutionary history and for genetic association studies. Previously, this ancestry...
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Comparing somatic mutation-callers: beyond Venn diagrams
Somatic mutation-calling based on DNA from matched tumor-normal patient samples is one of the key tasks carried by many cancer genome projects. One such large-scale project is The Cancer Genome Atlas...
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SeqBench: Integrated solution for the management and analysis of exome...
The rapid development of next genfective and time-saving. SeqBench, a web-based application, combines management and analysis of exome sequencing data into one solution. It provides a user friendly...
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Interaction-based discovery of functionally important genes in cancers
A major challenge in cancer genomics is uncovering genes with an active role in tumorigenesis from a potentially large pool of mutated genes across patient samples. Here researchers at Princeton...
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Identification of novel point mutations in splicing sites integrating...
Point mutations in intronic regions near mRNA splice junctions can affect the splicing process. To identify novel splicing variants from exome sequencing data, researchers at University of...
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iBinom free end-to-end genome interpretation solution
How do YOU plan to solve your exome, target or whole genome sequencing data analysis challenges tomorrow? iBinom is the most efficient end-to-end genome interpretation solution for robust, secure and...
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The struggle to find reliable results in exome sequencing data: filtering out...
Next Generation Sequencing studies generate a large quantity of genetic data in a relatively cost and time efficient manner and provide an unprecedented opportunity to identify candidate causative...
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ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing
Targeted enrichment sequencing by Next Generation Sequencing (NGS) is a common approach to interrogate specific loci or the whole exome in the human genome. The efficiency and the lack of bias in the...
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exomeSuite: Whole exome sequence variant filtering tool
Exome and whole-genome analyses powered by next-generation sequencing (NGS) have become invaluable tools in identifying causal mutations responsible for Mendelian disorders. Given that individual...
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