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Article
Map** and characterization of structural variation in 17,795 human genomes
A key goal of whole-genome sequencing for studies of human genetics is to interrogate all forms of variation, including single-nucleotide variants, small insertion or deletion (indel) variants and structural v...
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Article
Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power
An Amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Exome sequencing of Finnish isolates enhances rare-variant association power
Exome-sequencing studies have generally been underpowered to identify deleterious alleles with a large effect on complex traits as such alleles are mostly rare. Because the population of northern and eastern F...
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Article
Open AccessAuthor Correction: The prognostic effects of somatic mutations in ER-positive breast cancer
The original version of this Article contained errors in the depiction of confidence intervals in the NF1 BCSS data illustrated in Figure 3b. These have now been corrected in both the PDF and HTML versions of ...
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Article
Open AccessFunctional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects
Hundreds of thousands of human whole genome sequencing (WGS) datasets will be generated over the next few years. These data are more valuable in aggregate: joint analysis of genomes from many sources increases...
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Article
Open AccessThe prognostic effects of somatic mutations in ER-positive breast cancer
Here we report targeted sequencing of 83 genes using DNA from primary breast cancer samples from 625 postmenopausal (UBC-TAM series) and 328 premenopausal (MA12 trial) hormone receptor-positive (HR+) patients ...
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Article
Open AccessCIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer
CIViC is an expert-crowdsourced knowledgebase for Clinical Interpretation of Variants in Cancer describing the therapeutic, prognostic, diagnostic and predisposing relevance of inherited and somatic variants o...
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Article
Open AccessAromatase inhibition remodels the clonal architecture of estrogen-receptor-positive breast cancers
Resistance to oestrogen-deprivation therapy is common in oestrogen-receptor-positive (ER+) breast cancer. To better understand the contributions of tumour heterogeneity and evolution to resistance, here we per...
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Article
Open AccessPatterns and functional implications of rare germline variants across 12 cancer types
Large-scale cancer sequencing data enable discovery of rare germline cancer susceptibility variants. Here we systematically analyse 4,034 cases from The Cancer Genome Atlas cancer cases representing 12 cancer ...
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Article
Integrated analysis of germline and somatic variants in ovarian cancer
We report the first large-scale exome-wide analysis of the combined germline–somatic landscape in ovarian cancer. Here we analyse germline and somatic alterations in 429 ovarian carcinoma cases and 557 control...
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Article
DGIdb: mining the druggable genome
A database of known drug-gene interactions, with information derived from many public sources, allows the identification of genes that are currently targeted by a drug and the membership of genes in a category...
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Article
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration
Goncalo Abecasis and colleagues report identification of a rare coding variant in the complement 3 gene that is associated with age-related macular degeneration.
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Article
Open AccessClonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing
The sequencing of AML genomes of eight patients before and after relapse reveals two major patterns of clonal evolution, with chemotherapy appearing to have a role in both patterns.
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Massively Parallel Sequencing Approaches for Characterization of Structural Variation
The emergence of next-generation sequencing (NGS) technologies offers an incredible opportunity to comprehensively study DNA sequence variation in human genomes. Commercially available platforms from Roche (45...
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Article
Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes
Matthew Walter and colleagues report the whole-genome sequencing of a secondary acute myeloid leukemia sample and a matched normal tissue sample. Further analysis of additional subjects identified recurrent mu...
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Article
Genome remodelling in a basal-like breast cancer metastasis and xenograft
Massively parallel DNA sequencing technologies provide an unprecedented ability to screen entire genomes for genetic changes associated with tumour progression. Here we describe the genomic analyses of four DN...
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Article
BreakDancer: an algorithm for high-resolution map** of genomic structural variation
This software package provides genome-wide detection of structural variants (insertions, deletions, inversions and inter- and intrachromosomal translocations) from 50-base-pair paired-end reads. The sizes of t...
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Article
Open AccessDNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
Acute myeloid leukaemia is a highly malignant haematopoietic tumour that affects about 13,000 adults in the United States each year. The treatment of this disease has changed little in the past two decades, be...
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Article
Somatic mutations affect key pathways in lung adenocarcinoma
Determining the genetic basis of cancer requires comprehensive analyses of large collections of histopathologically well-classified primary tumours. Here we report the results of a collaborative study to disco...
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Chapter
Precursors for upper gastrointestinal cancer: the need for screening
Over the past two decades, an increasing number of reports in the literature have suggested that cancer of the esophagus and stomach may develop in association with certain underlying disorders or following pr...
