(Q39043523)

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Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists

scientific article published on January 2017

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Europe PubMed Central

PMC publication ID

10 January 2018

http://europepmc.org/abstract/PMC/5707196

Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists (English)

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Europe PubMed Central

PMC publication ID

10 January 2018

http://europepmc.org/abstract/PMC/5707196

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clinical oncology

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inferred from title

Apostolia Maria Tsimberidou

7

object named as

Apostolia M Tsimberidou

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Europe PubMed Central

PMC publication ID

10 January 2018

http://europepmc.org/abstract/PMC/5707196

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Marilyn M Li

1

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Europe PubMed Central

PMC publication ID

10 January 2018

http://europepmc.org/abstract/PMC/5707196

Michael Datto

2

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Europe PubMed Central

PMC publication ID

10 January 2018

http://europepmc.org/abstract/PMC/5707196

Eric J Duncavage

3

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Europe PubMed Central

PMC publication ID

10 January 2018

http://europepmc.org/abstract/PMC/5707196

Shashikant Kulkarni

4

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PMC publication ID

10 January 2018

http://europepmc.org/abstract/PMC/5707196

Neal I Lindeman

5

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Europe PubMed Central

PMC publication ID

10 January 2018

http://europepmc.org/abstract/PMC/5707196

Somak Roy

6

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Europe PubMed Central

PMC publication ID

10 January 2018

http://europepmc.org/abstract/PMC/5707196

Cindy L Vnencak-Jones

8

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Europe PubMed Central

PMC publication ID

10 January 2018

http://europepmc.org/abstract/PMC/5707196

Daynna J Wolff

9

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Europe PubMed Central

PMC publication ID

10 January 2018

http://europepmc.org/abstract/PMC/5707196

Anas Younes

10

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Europe PubMed Central

PMC publication ID

10 January 2018

http://europepmc.org/abstract/PMC/5707196

Marina N Nikiforova

11

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Europe PubMed Central

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10 January 2018

http://europepmc.org/abstract/PMC/5707196

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1 January 2017

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Europe PubMed Central

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10 January 2018

http://europepmc.org/abstract/PMC/5707196

The Journal of Molecular Diagnostics

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Europe PubMed Central

PMC publication ID

10 January 2018

http://europepmc.org/abstract/PMC/5707196

19

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Europe PubMed Central

PMC publication ID

10 January 2018

http://europepmc.org/abstract/PMC/5707196

1

1 reference

Europe PubMed Central

PMC publication ID

10 January 2018

http://europepmc.org/abstract/PMC/5707196

4-23

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Europe PubMed Central

PMC publication ID

10 January 2018

http://europepmc.org/abstract/PMC/5707196

Indel variant analysis of short-read sequencing data with Scalpel.

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Pilocytic astrocytoma: pathology, molecular mechanisms and markers.

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

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Reporting Incidental Findings in Genomic Scale Clinical Sequencing-A Clinical Laboratory Perspective: A Report of the Association for Molecular Pathology

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Using VarScan 2 for Germline Variant Calling and Somatic Mutation Detection

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Age-related clonal hematopoiesis associated with adverse outcomes

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Next-generation DNA sequencing

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BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707196

17 June 2018

Kirsten ras mutations in patients with colorectal cancer: the 'RASCAL II' study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707196

17 June 2018

GeneSplicer: a new computational method for splice site prediction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707196

17 June 2018

dbSNP: the NCBI database of genetic variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707196

17 June 2018

Mechanisms of all-trans retinoic acid-induced differentiation of acute promyelocytic leukemia cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707196

17 June 2018

Improved splice site detection in Genie

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707196

17 June 2018

Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707196

17 June 2018

Prediction of human mRNA donor and acceptor sites from the DNA sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707196

17 June 2018

Implementing personalized cancer care

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707196

21 August 2018

MutationTaster2: mutation prediction for the deep-sequencing age.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707196

21 August 2018

Validation of a next-generation sequencing assay for clinical molecular oncology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707196

21 August 2018

Predicting the functional consequences of non-synonymous DNA sequence variants--evaluation of bioinformatics tools and development of a consensus strategy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707196

21 August 2018

The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707196

21 August 2018

Pilot Study Using Molecular Profiling of Patients' Tumors to Find Potential Targets and Select Treatments for Their Refractory Cancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707196

21 August 2018

IntOGen: integration and data mining of multidimensional oncogenomic data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707196

21 August 2018

Clinical laboratory reports in molecular pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707196

21 August 2018

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707196

21 August 2018

Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707196

21 August 2018

Molecular Testing Guideline for Selection of Lung Cancer Patients for EGFR and ALK Tyrosine Kinase Inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707196

2 December 2018

Performance of mutation pathogenicity prediction methods on missense variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/27993330

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[New knowledge of Li-Fraumeni syndrome]

1 reference

https://pubmed.ncbi.nlm.nih.gov/27993330

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/27993330

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Precision Oncology: An Overview

1 reference

https://pubmed.ncbi.nlm.nih.gov/27993330

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Adaptation of the upper gastrointestinal tract following vagotomy]

1 reference

https://pubmed.ncbi.nlm.nih.gov/27993330

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

c-kit point mutation of extracellular domain in patients with myeloproliferative disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/27993330

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Targeting p53 in vivo: a first-in-human study with p53-targeting compound APR-246 in refractory hematologic malignancies and prostate cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/27993330

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The BRAF(V600E) mutation is an independent, poor prognostic factor for the outcome of patients with low-risk intrathyroid papillary thyroid carcinoma: single-institution results from a large cohort study

1 reference

https://pubmed.ncbi.nlm.nih.gov/27993330

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs

1 reference

https://pubmed.ncbi.nlm.nih.gov/27993330

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.JMOLDX.2016.10.002

1 reference

Europe PubMed Central

PMC publication ID

10 January 2018

http://europepmc.org/abstract/PMC/5707196

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

10 January 2018

http://europepmc.org/abstract/PMC/5707196

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

10 January 2018

http://europepmc.org/abstract/PMC/5707196

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