Estimation of copy number alterations from exome sequencing data (Q30584272)

14 August 2017

Estimation of copy number alterations from exome sequencing data (English)

1 reference

14 August 2017

4

1 reference

PubMed publication ID

25 June 2017

Xose S Puente

5

0 references

Diana Puente

series ordinal

3

object named as

Diana A Puente

1 reference

14 August 2017

1

Rafael Valdés-Mas

1 reference

14 August 2017

Silvia Bea

2

1 reference

PMC publication ID

3526607

14 August 2017

language of work or name

English

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publication date

19 December 2012

1 reference

14 August 2017

1 reference

14 August 2017

7

1 reference

14 August 2017

12

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14 August 2017

e51422

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Creative Commons Attribution 4.0 International

14 August 2017

start time

19 December 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Copy number variation detection and genotyping from exome sequence data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

CONTRA: copy number analysis for targeted resequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Detection of somatic copy number alterations in cancer using targeted exome capture sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Unlocking Mendelian disease using exome sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Integrated genomic analyses of ovarian carcinoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Copy number and targeted mutational analysis reveals novel somatic events in metastatic prostate tumors

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

An integrated approach to uncover drivers of cancer.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

DNMT3A Mutations in Acute Myeloid Leukemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Frequent mutation of BAP1 in metastasizing uveal melanomas

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Advances in understanding cancer genomes through second-generation sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

International network of cancer genome projects

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

The landscape of somatic copy-number alteration across human cancers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Fast and accurate long-read alignment with Burrows-Wheeler transform

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

A small-cell lung cancer genome with complex signatures of tobacco exposure

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

A comprehensive catalogue of somatic mutations from a human cancer genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

From pathogenesis to treatment of chronic lymphocytic leukaemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Exome sequencing identifies the cause of a mendelian disorder

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Targeted capture and massively parallel sequencing of 12 human exomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Recurring mutations found by sequencing an acute myeloid leukemia genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

The Sequence Alignment/Map format and SAMtools

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

miR-15a and miR-16-1 in cancer: discovery, function and future perspectives

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Hybrid selection of discrete genomic intervals on custom-designed microarrays for massively parallel sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

Mapping and quantifying mammalian transcriptomes by RNA-Seq

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

A faster circular binary segmentation algorithm for the analysis of array CGH data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526607

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

28 July 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0051422

Initial genome sequencing and analysis of multiple myeloma

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0051422

Copy number variants at Williams-Beuren syndrome 7q11.23 region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0051422

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0051422

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0051422

10.1371/JOURNAL.PONE.0051422

21 January 2018

Identifiers

DOI

1 reference

14 August 2017

0 references

1 reference

PMC publication ID

3526607

14 August 2017

PubMed publication ID

23284693

1 reference

PMC publication ID

3526607