Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events (Q47108203)

8 January 2018

title

Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events (English)

1 reference

8 January 2018

2

Simone Cree

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8 January 2018

Vanessa Lau

3

Vanessa Lattimore

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8 January 2018

George Wiggins

4

George A R Wiggins

1 reference

8 January 2018

Amanda Spurdle

5

Amanda B Spurdle

1 reference

PMCID

5706335

8 January 2018

kConFab Investigators

6

kConFab Investigators

1 reference

8 January 2018

7

Allison Miller

1 reference

8 January 2018

Martin Kennedy

Martin A Kennedy

8

0 references

Logan Walker

Logan C Walker

9

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author name string

Lucy C de Jong

1

1 reference

8 January 2018

publication date

28 November 2017

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8 January 2018

published in

Breast Cancer Research

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8 January 2018

volume

19

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8 January 2018

issue

1

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8 January 2018

page(s)

127

1 reference

8 January 2018

https://scigraph.springernature.com/pub.10.1186/s13058-017-0919-1

exact match

0 references

cites work

MinION Analysis and Reference Consortium: Phase 1 data release and analysis

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23 May 2018

1 reference

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Determining exon connectivity in complex mRNAs by nanopore sequencing

23 May 2018

1 reference

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Improved data analysis for the MinION nanopore sequencer

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5706335

Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5706335

G-quadruplex structures and CpG methylation cause drop-out of the maternal allele in polymerase chain reaction amplification of the imprinted MEST gene promoter

23 May 2018

1 reference

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23 May 2018

1 reference

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Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

23 May 2018

1 reference

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Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines

23 May 2018

1 reference

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ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

23 May 2018

1 reference

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A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

23 May 2018

1 reference

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Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

23 May 2018

1 reference

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Prediction and assessment of splicing alterations: implications for clinical testing

23 May 2018

1 reference

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GMAP: a genomic mapping and alignment program for mRNA and EST sequences

23 May 2018

1 reference

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Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

23 May 2018

1 reference

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Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

23 May 2018

1 reference

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The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29183387

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13058-017-0919-1

1 reference

8 January 2018

Dimensions Publication ID

0 references

1 reference

8 January 2018

PubMed ID

29183387

1 reference

8 January 2018