Search Results - "LARSON, David E"
-
1
The Next-Generation Sequencing Revolution and Its Impact on Genomics
Published in Cell (26-09-2013)“…Genomics is a relatively new scientific discipline, having DNA sequencing as its core technology. As technology has improved the cost and scale of genome…”
Get full text
Journal Article -
2
VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing
Published in Genome research (01-03-2012)“…Cancer is a disease driven by genetic variation and mutation. Exome sequencing can be utilized for discovering these variants and mutations across hundreds of…”
Get full text
Journal Article -
3
CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer
Published in Nature genetics (01-02-2017)“…CIViC is an expert-crowdsourced knowledgebase for Clinical Interpretation of Variants in Cancer describing the therapeutic, prognostic, diagnostic and…”
Get full text
Journal Article -
4
VarScan: variant detection in massively parallel sequencing of individual and pooled samples
Published in Bioinformatics (01-09-2009)“…Massively parallel sequencing technologies hold incredible promise for the study of DNA sequence variation, particularly the identification of variants…”
Get full text
Journal Article -
5
SomaticSniper: identification of somatic point mutations in whole genome sequencing data
Published in Bioinformatics (01-02-2012)“…Motivation: The sequencing of tumors and their matched normals is frequently used to study the genetic composition of cancer. Despite this fact, there remains…”
Get full text
Journal Article -
6
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects
Published in Nature communications (02-10-2018)“…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:…”
Get full text
Journal Article -
7
Clonal Architecture of Secondary Acute Myeloid Leukemia
Published in The New England journal of medicine (22-03-2012)“…Whole-genome sequencing of samples from seven subjects with secondary acute myeloid leukemia identified somatic mutations. These data, together with genotype…”
Get full text
Journal Article -
8
Using VarScan 2 for Germline Variant Calling and Somatic Mutation Detection
Published in Current protocols in bioinformatics (01-12-2013)“…The identification of small sequence variants remains a challenging but critical step in the analysis of next-generation sequencing data. Our variant calling…”
Get more information
Journal Article -
9
BreakDancer: an algorithm for high-resolution mapping of genomic structural variation
Published in Nature methods (01-09-2009)“…This software package provides genome-wide detection of structural variants (insertions, deletions, inversions and inter- and intrachromosomal translocations)…”
Get full text
Journal Article -
10
The prognostic effects of somatic mutations in ER-positive breast cancer
Published in Nature communications (04-09-2018)“…Here we report targeted sequencing of 83 genes using DNA from primary breast cancer samples from 625 postmenopausal (UBC-TAM series) and 328 premenopausal…”
Get full text
Journal Article -
11
Integrated analysis of germline and somatic variants in ovarian cancer
Published in Nature communications (01-01-2014)“…We report the first large-scale exome-wide analysis of the combined germline–somatic landscape in ovarian cancer. Here we analyse germline and somatic…”
Get full text
Journal Article -
12
Background Mutations in Parental Cells Account for Most of the Genetic Heterogeneity of Induced Pluripotent Stem Cells
Published in Cell stem cell (04-05-2012)“…To assess the genetic consequences of induced pluripotent stem cell (iPSC) reprogramming, we sequenced the genomes of ten murine iPSC clones derived from three…”
Get full text
Journal Article -
13
Aromatase inhibition remodels the clonal architecture of estrogen-receptor-positive breast cancers
Published in Nature communications (09-08-2016)“…Resistance to oestrogen-deprivation therapy is common in oestrogen-receptor-positive (ER+) breast cancer. To better understand the contributions of tumour…”
Get full text
Journal Article -
14
Csk-Deficient Boundary Cells Are Eliminated from Normal Drosophila Epithelia by Exclusion, Migration, and Apoptosis
Published in Developmental cell (2006)“…The construction and maintenance of normal epithelia relies on local signals that guide cells into their proper niches and remove unwanted cells. Failure to…”
Get full text
Journal Article -
15
Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders
Published in American journal of human genetics (06-03-2014)“…Exome sequencing in families affected by rare genetic disorders has the potential to rapidly identify new disease genes (genes in which mutations cause…”
Get full text
Journal Article -
16
Truncating Prolactin Receptor Mutations Promote Tumor Growth in Murine Estrogen Receptor-Alpha Mammary Carcinomas
Published in Cell reports (Cambridge) (27-09-2016)“…Estrogen receptor alpha-positive (ERα+) luminal tumors are the most frequent subtype of breast cancer. Stat1−/− mice develop mammary tumors that closely…”
Get full text
Journal Article -
17
The clonal evolution of metastatic colorectal cancer
Published in Science advances (01-06-2020)“…Tumor heterogeneity and evolution drive treatment resistance in metastatic colorectal cancer (mCRC). Patient-derived xenografts (PDXs) can model mCRC biology;…”
Get full text
Journal Article -
18
Author Correction: The prognostic effects of somatic mutations in ER-positive breast cancer
Published in Nature communications (14-11-2018)“…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…”
Get full text
Journal Article -
19
CMDS: a population-based method for identifying recurrent DNA copy number aberrations in cancer from high-resolution data
Published in Bioinformatics (15-02-2010)“…Motivation: DNA copy number aberration (CNA) is a hallmark of genomic abnormality in tumor cells. Recurrent CNA (RCNA) occurs in multiple cancer samples across…”
Get full text
Journal Article -
20
Computer simulation of cellular patterning within the Drosophila pupal eye
Published in PLoS computational biology (01-07-2010)“…We present a computer simulation and associated experimental validation of assembly of glial-like support cells into the interweaving hexagonal lattice that…”
Get full text
Journal Article