Shawn E. Yost

发表

Identification of Liver Cancer Progenitors Whose Malignant Progression Depends on Autocrine IL-6 Signaling

Kristen Jepsen, Kelly A. Frazer, Olivier Harismendy, 2013, Cell.

Identification of high-confidence somatic mutations in whole genome sequence of formalin-fixed breast cancer specimens

Richard B. Schwab, Kelly A. Frazer, Olivier Harismendy, 2012, Nucleic acids research.

High-Resolution Mutational Profiling Suggests the Genetic Validity of Glioblastoma Patient-Derived Pre-Clinical Models

Kelly A. Frazer, Olivier Harismendy, Santosh Kesari, 2013, PloS one.

Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers

N. Rahman, L. Alexandrov, Elise Ruark, 2019, JNCI cancer spectrum.

Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing

Shawn E. Yost, Hakan Alakus, Hiroko Matsui, 2013, Bioinform..

BAP1 mutation is a frequent somatic event in peritoneal malignant mesothelioma

K. Frazer, O. Harismendy, K. Jepsen, 2015, Journal of Translational Medicine.

Evaluation of ultra-deep targeted sequencing for personalized breast cancer care

K. Frazer, O. Harismendy, H. Anton-Culver, 2013, Breast Cancer Research.

Mutational Profiling Can Establish Clonal or Independent Origin in Synchronous Bilateral Breast and Other Tumors

K. Frazer, O. Harismendy, B. Parker, 2015, PloS one.

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

S. Seal, N. Rahman, S. Mahamdallie, 2018, Wellcome open research.

Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours

S. Seal, R. Huddart, P. Broderick, 2015, Nature Communications.

Accurate Identification of Somatic Mutations in Clinical Tumor Specimens

Shawn E. Yost, 2013 .

Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

S. Seal, N. Rahman, J. Pines, 2017, Nature Genetics.

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

S. Seal, N. Rahman, I. Temple, 2017, American journal of human genetics.

BAP1 mutation is a frequent somatic event in peritoneal malignant mesothelioma

K. Frazer, O. Harismendy, K. Jepsen, 2015, Journal of Translational Medicine.

Corrigendum: Mutations in the transcriptional repressor REST predispose to Wilms tumor

C. Shaw, S. Seal, N. Rahman, 2016, Nature Genetics.

Mutations in the transcriptional repressor REST predispose to Wilms tumor

C. Shaw, S. Seal, N. Rahman, 2015, Nature Genetics.

Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin

K. Frazer, O. Harismendy, M. Peterson, 2014, Genome Medicine.

Chromosomal instability by mutations in the novel minor spliceosome component CENATAC

B. Snel, N. Rahman, M. Vermeulen, 2021, The EMBO journal.

Chromosomal instability by mutations in a novel specificity factor of the minor spliceosome

B. Snel, N. Rahman, M. Vermeulen, 2020, bioRxiv.

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

Nazneen Rahman, Shazia Mahamdallie, Shawn Yost, 2019, JAMA network open.

Mutations in topoisomerase IIβ result in a B cell immunodeficiency

H. Hakonarson, K. Frazer, Jian Wang, 2019, Nature Communications.

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

S. Seal, N. Rahman, S. Hanks, 2019, The Lancet. Child & adolescent health.

Correction: Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin

K. Frazer, O. Harismendy, M. Peterson, 2014, Genome Medicine.

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series

Nazneen Rahman, Shazia Mahamdallie, Elise Ruark, 2018, Wellcome open research.

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series

N. Rahman, S. Ellard, A. Renwick, 2018, Wellcome Open Research.

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

S. Seal, N. Rahman, A. Renwick, 2017, Wellcome Open Research.

Clinical Annotation Reference Templates: a resource for consistent variant annotation

Nazneen Rahman, Shazia Mahamdallie, Elise Ruark, 2018, Wellcome Open Research.

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

Shazia Mahamdallie, Elise Ruark, Shawn Yost, 2018, Wellcome open research.

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance [version 1; peer review: 2 approved, 1 approved with reservations]

S. Seal, N. Rahman, A. Renwick, 2021 .

Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

S. Seal, N. Rahman, J. Pines, 2017, Nature Genetics.

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series

N. Rahman, S. Ellard, A. Renwick, 2018, Wellcome open research.

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series [version 1; peer review: 2 approved with reservations]

N. Rahman, S. Ellard, A. Renwick, 2021 .

Previously titled: ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series

A. Renwick, Esty Holt, S. Mahamdallie, 2018 .