A somatic reference standard for cancer genome sequencing (Q35994200)

11 August 2017

A somatic reference standard for cancer genome sequencing (English)

1 reference

11 August 2017

0 references

Cancer genome sequencing

1 reference

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Steven Jones

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Marco Marra

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

18

Yussanne Ma

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

author name string

David W Craig

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Sara Nasser

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Richard Corbett

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Simon K Chan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Lisa Murray

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Christophe Legendre

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Waibhav Tembe

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jonathan Adkins

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Nancy Kim

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Shukmei Wong

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Angela Baker

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Daniel Enriquez

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Stephanie Pond

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Erin Pleasance

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Richard A Moore

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Timothy McDaniel

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

John D Carpten

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Winnie S Liang

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

publication date

20 April 2016

1 reference

11 August 2017

language of work or name

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

page(s)

24607

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

4 June 2020

copyright license

start time

1 April 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

COLO 829

0 references

COLO 829BL

0 references

cites work

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Genomic Classification of Cutaneous Melanoma

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Systematic Screening of Promoter Regions Pinpoints Functional Cis-Regulatory Mutations in a Cutaneous Melanoma Genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Unified representation of genetic variants

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Comparison of insertion/deletion calling algorithms on human next-generation sequencing data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Validation of a next-generation-sequencing cancer panel for use in the clinical laboratory.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

2 October 2017

UV Signature Mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Clinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Analytical validation of whole exome and whole genome sequencing for clinical applications

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Detecting somatic point mutations in cancer genome sequencing data: a comparison of mutation callers

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Long insert whole genome sequencing for copy number variant and translocation detection

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

TERT promoter mutations in primary and secondary glioblastomas.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Signatures of mutational processes in human cancer

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Clinical validation of a next-generation sequencing screen for mutational hotspots in 46 cancer-related genes.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Identification of somatic mutations in cancer through Bayesian-based analysis of sequenced genome pairs

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Highly Recurrent TERT Promoter Mutations in Human Melanoma

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

An integrated map of genetic variation from 1,092 human genomes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Melanoma genome sequencing reveals frequent PREX2 mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and genome analyzer systems

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Base-calling for next-generation sequencing platforms

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

CNAseg--a novel framework for identification of copy number changes in cancer from second-generation sequencing data.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Evolution of an adenocarcinoma in response to selection by targeted kinase inhibitors

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

A comprehensive catalogue of somatic mutations from a human cancer genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Fast and accurate short read alignment with Burrows-Wheeler transform

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Epidemiology of melanoma and nonmelanoma skin cancer--the role of sunlight.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Mutations induced by ultraviolet light

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Mutations of the BRAF gene in human cancer

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

The epidemiology of UV induced skin cancer

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Mechanism of guanine-specific DNA damage by oxidative stress and its role in carcinogenesis and aging

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Distribution of TERT promoter mutations in pediatric and adult tumors of the nervous system

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837349

Melanomas of unknown primary frequently harbor TERT-promoter mutations

23 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27094764

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of the BRAF V600E mutation in primary cutaneous melanoma

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27094764

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/SREP24607

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27094764%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

PubMed publication ID

27094764

1 reference