Sheila Seal

Sutton Upon Derwent, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 39 publications

A pilot study investigating feasibility of mainstreaming germline BRCA1 and BRCA2 testing in high-risk patients with breast and/or ovarian cancer in three tertiary Cancer Centres in Ireland.

A pilot study investigating feasibility of mainstreaming germline BRCA1 and BRCA2 testing in high-risk patients with breast and/or ovarian cancer in three tertiary Cancer Centres in Ireland.

Journal: Familial cancer

Published: June 20, 2022

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 08, 2020

Evaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer.

Evaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer.

Journal: JAMA network open

Published: May 25, 2019

Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Journal: Oncotarget

Published: January 08, 2019

Identification of new Wilms tumour predisposition genes: an exome sequencing study.

Identification of new Wilms tumour predisposition genes: an exome sequencing study.

Journal: The Lancet. Child & adolescent health

Published: November 05, 2018

The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing.

The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing.

Journal: Wellcome open research

Published: June 06, 2018

CoverView: a sequence quality evaluation tool for next generation sequencing data.

CoverView: a sequence quality evaluation tool for next generation sequencing data.

Journal: Wellcome open research

Published: March 27, 2018

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance.

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance.

Journal: Wellcome open research

Published: March 27, 2018

Resolving the full spectrum of human genome variation using Linked-Reads.

Resolving the full spectrum of human genome variation using Linked-Reads.

Journal: Genome research

Published: January 09, 2018

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.

Journal: Nature genetics

Published: September 21, 2017

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data.

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data.

Journal: Wellcome open research

Published: May 25, 2017

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.

Journal: Wellcome open research

Published: May 02, 2017

Showing 1-12 of 39

Last Updated: 09/26/2026