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Now showing items 21-27 of 27
Improving GENCODE reference gene annotation using a high-stringency proteogenomics workflow.
(NATURE PORTFOLIO, 2016-06-02)
Complete annotation of the human genome is indispensable for medical research. The GENCODE consortium strives to provide this, augmenting computational and experimental evidence with manual annotation. The rapidly developing ...
Flexible Data Analysis Pipeline for High-Confidence Proteogenomics.
(AMER CHEMICAL SOC, 2016-12-02)
Proteogenomics leverages information derived from proteomic data to improve genome annotations. Of particular interest are "novel" peptides that provide direct evidence of protein expression for genomic regions not previously ...
Somatic mutations reveal asymmetric cellular dynamics in the early human embryo.
(NATURE PUBLISHING GROUP, 2017-03-30)
Somatic cells acquire mutations throughout the course of an individual's life. Mutations occurring early in embryogenesis are often present in a substantial proportion of, but not all, cells in postnatal humans and thus ...
Pan-cancer analysis of whole genomes.
(NATURE PORTFOLIO, 2020-02-06)
Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1-3. Here we report the integrative analysis of ...
Rare germline copy number variants (CNVs) and breast cancer risk.
(NATURE PORTFOLIO, 2022-01-18)
Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding ...
Perspectives on ENCODE.
(NATURE RESEARCH, 2020-07-30)
The Encylopedia of DNA Elements (ENCODE) Project launched in 2003 with the long-term goal of developing a comprehensive map of functional elements in the human genome. These included genes, biochemical regions associated ...
Mapping the breast cancer metastatic cascade onto ctDNA using genetic and epigenetic clonal tracking.
(NATURE PORTFOLIO, 2020-03-27)
Circulating tumour DNA (ctDNA) allows tracking of the evolution of human cancers at high resolution, overcoming many limitations of tissue biopsies. However, exploiting ctDNA to determine how a patient's cancer is evolving ...