(Q31105539)

http://europepmc.org/abstract/PMC/5772337

25 February 2018

title

Copy number analysis of whole-genome data using BIC-seq2 and its application to detection of cancer susceptibility variants (English)

1 reference

http://europepmc.org/abstract/PMC/5772337

25 February 2018

main subject

whole genome sequencing

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27260798%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

author name string

Semin Lee

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27260798%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Yuchao Xia

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27260798%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Tae-Min Kim

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27260798%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Peter J Park

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27260798%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

language of work or name

English

0 references

publication date

3 June 2016

1 reference

http://europepmc.org/abstract/PMC/5772337

25 February 2018

published in

Nucleic Acids Research

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27260798%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

volume

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27260798%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

issue

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27260798%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

page(s)

6274-6286

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27260798%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution-NonCommercial 4.0 International

7 June 2020

copyright license

start time

11 November 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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PLEKHA5 as a Biomarker and Potential Mediator of Melanoma Brain Metastasis

21 June 2018

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DNA copy number analysis of fresh and formalin-fixed specimens by shallow whole-genome sequencing with identification and exclusion of problematic regions in the genome assembly

21 June 2018

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Proteogenomic characterization of human colon and rectal cancer

21 June 2018

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Structural genomic variation as risk factor for idiopathic recurrent miscarriage

21 June 2018

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Whole-genome sequencing and comprehensive molecular profiling identify new driver mutations in gastric cancer.

21 June 2018

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Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer

21 June 2018

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The emerging roles of ARID1A in tumor suppression

21 June 2018

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Integrated analysis of germline and somatic variants in ovarian cancer.

21 June 2018

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Novel germline mutation in the transmembrane domain of HER2 in familial lung adenocarcinomas.

21 June 2018

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Depletion of a putatively druggable class of phosphatidylinositol kinases inhibits growth of p53-null tumors

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Pan-cancer patterns of somatic copy number alteration

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Improving detection of copy-number variation by simultaneous bias correction and read-depth segmentation

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Comprehensive molecular characterization of human colon and rectal cancer

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Altered LKB1/AMPK/TSC1/TSC2/mTOR signaling causes disruption of Sertoli cell polarity and spermatogenesis

21 June 2018

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Overexpression of GOLPH3 promotes proliferation and tumorigenicity in breast cancer via suppression of the FOXO1 transcription factor

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

ReadDepth: a parallel R package for detecting copy number alterations from short sequencing reads

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Mapping copy number variation by population-scale genome sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Control-free calling of copy number alterations in deep-sequencing data using GC-content normalization

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Phosphoinositide signalling in cancer: beyond PI3K and PTEN.

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Biases in Illumina transcriptome sequencing caused by random hexamer priming

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Germline copy number variation and cancer risk

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Origins and functional impact of copy number variation in the human genome

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

TFG, a target of chromosome translocations in lymphoma and soft tissue tumors, fuses to GPR128 in healthy individuals

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

GOLPH3 modulates mTOR signalling and rapamycin sensitivity in cancer

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Copy number variation at 1q21.1 associated with neuroblastoma

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Genome-wide screen of promoter methylation identifies novel markers in melanoma.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Fast and accurate short read alignment with Burrows-Wheeler transform

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data

21 June 2018

1 reference

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Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

High-resolution mapping of copy-number alterations with massively parallel sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

MetaSim: a sequencing simulator for genomics and metagenomics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Large recurrent microdeletions associated with schizophrenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Aberrant CpG island methylation in acute myeloid leukemia is accentuated at relapse

21 June 2018

1 reference

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Assessing the significance of chromosomal aberrations in cancer: methodology and application to glioma

21 June 2018

1 reference

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FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity

21 June 2018

1 reference

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CancerGenes: a gene selection resource for cancer genome projects

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Salivary gland tumors in transgenic mice with targeted PLAG1 proto-oncogene overexpression

21 June 2018

1 reference

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mTOR: a placental growth signaling sensor

21 June 2018

1 reference

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A census of human cancer genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Overexpression of the amplified Pip4k2beta gene from 17q11-12 in breast cancer cells confers proliferation advantage

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Human RERE is localized to nuclear promyelocytic leukemia oncogenic domains and enhances apoptosis

21 June 2018

1 reference

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Activated in prostate cancer: a PDZ domain-containing protein highly expressed in human primary prostate tumors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Environmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden, Denmark, and Finland

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

TRK-fused gene (TFG) is a new partner of ALK in anaplastic large cell lymphoma producing two structurally different TFG-ALK translocations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Cloning of the ALL-1 fusion partner, the AF-6 gene, involved in acute myeloid leukemias with the t(6;11) chromosome translocation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

The DNA rearrangement that generates the TRK-T3 oncogene involves a novel gene on chromosome 3 whose product has a potential coiled-coil domain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5772337

Germline copy number variations in BRCA1-associated ovarian cancer patients.

21 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKW491

Expression of mammaglobin and gross cystic disease fluid protein-15 in breast carcinomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKW491

Prognosis of metastatic gastric and gastroesophageal junction cancer by HER2 status: a European and USA International collaborative analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKW491

TFG is a novel fusion partner of NOR1 in extraskeletal myxoid chondrosarcoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKW491

GOLPH3 high expression predicts poor prognosis in patients with resected non-small cell lung cancer: an immunohistochemical analysis

21 January 2018

1 reference

12 December 2020

Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes

1 reference

12 December 2020

Exome sequencing identifies an MLL3 gene germ line mutation in a pedigree of colorectal cancer and acute myeloid leukemia

1 reference

12 December 2020

Exome sequencing of liver fluke-associated cholangiocarcinoma

1 reference

12 December 2020

Identifiers

DOI

10.1093/NAR/GKW491

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27260798%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27260798%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

PubMed publication ID

27260798

1 reference