(Q33572945)

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Intersect-then-combine approach: improving the performance of somatic variant calling in whole exome sequencing data using multiple aligners and callers

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Europe PubMed Central

PubMed publication ID

28 July 2017

Intersect-then-combine approach: improving the performance of somatic variant calling in whole exome sequencing data using multiple aligners and callers (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

sequence alignment

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based on heuristic

inferred from title

Leticia De Mattos-Arruda

3

object named as

Leticia De Mattos-Arruda

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Maurizio Callari

object named as

Maurizio Callari

1

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7

object named as

Carlos Caldas

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Suet-feung Chin

6

object named as

Suet-Feung Chin

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

5

object named as

Oscar M Rueda

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Alejandra Bruna

4

object named as

Alejandra Bruna

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

Stephen-John Sammut

2

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Europe PubMed Central

PubMed publication ID

28 July 2017

Leticia De Mattos-Arruda

3

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Europe PubMed Central

PubMed publication ID

28 July 2017

publication date

18 April 2017

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Europe PubMed Central

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28 July 2017

Genome Medicine

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Europe PubMed Central

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28 July 2017

9

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Europe PubMed Central

PubMed publication ID

28 July 2017

1

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Europe PubMed Central

PubMed publication ID

28 July 2017

35

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Europe PubMed Central

PubMed publication ID

28 July 2017

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

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A Biobank of Breast Cancer Explants with Preserved Intra-tumor Heterogeneity to Screen Anticancer Compounds

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

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The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

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Consensus on precision medicine for metastatic cancers: a report from the MAP conference.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

21 June 2018

Evaluation of Nine Somatic Variant Callers for Detection of Somatic Mutations in Exome and Targeted Deep Sequencing Data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

21 June 2018

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

21 June 2018

Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

21 June 2018

Integrative clinical genomics of advanced prostate cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

21 June 2018

Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

21 June 2018

An analytical framework for optimizing variant discovery from personal genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

21 June 2018

Comparison of somatic mutation calling methods in amplicon and whole exome sequence data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

21 June 2018

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

21 June 2018

The next-generation sequencing revolution and its impact on genomics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

21 June 2018

The Cancer Genome Atlas Pan-Cancer analysis project

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

21 June 2018

A comparative analysis of algorithms for somatic SNV detection in cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

21 June 2018

Comparing somatic mutation-callers: beyond Venn diagrams

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

21 June 2018

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

21 June 2018

Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

21 June 2018

Strelka: accurate somatic small-variant calling from sequenced tumor-normal sample pairs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

21 June 2018

Cancer genome sequencing: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

21 June 2018

RPS6KA2, a putative tumour suppressor gene at 6q27 in sporadic epithelial ovarian cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5394620

21 June 2018

Identifiers

10.1186/S13073-017-0425-1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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