Stephen E Lincoln

Stephen E Lincoln

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Stephen E Lincoln

Stephen E Lincoln

Publications by authors named "Stephen E Lincoln"

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21Publications

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A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing.

J Mol Diagn 2019 Mar 3;21(2):318-329. Epub 2019 Jan 3.

Laboratory for Molecular Medicine, Partners HealthCare, Cambridge, Massachusetts; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

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http://dx.doi.org/10.1016/j.jmoldx.2018.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629256PMC
March 2019

Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy.

Cancer 2018 Apr 23;124(8):1691-1700. Epub 2018 Jan 23.

Department of Gastroenterology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1002/cncr.31242DOI Listing
April 2018

Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists.

J Mol Diagn 2018 01 21;20(1):4-27. Epub 2017 Nov 21.

Next Generation Sequencing Bioinformatics Pipeline Validation Working Group of the Clinical Practice Committee, Bethesda, Maryland; Department of Pathology and Laboratory Medicine, Children's Healthcare of Atlanta, Atlanta, Georgia.

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https://linkinghub.elsevier.com/retrieve/pii/S15251578173037
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http://dx.doi.org/10.1016/j.jmoldx.2017.11.003DOI Listing
January 2018

Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.

Proc Natl Acad Sci U S A 2018 01 26;115(2):379-384. Epub 2017 Dec 26.

South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville and Edinburg, TX 78520.

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http://dx.doi.org/10.1073/pnas.1705859115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777025PMC
January 2018

Sources of discordance among germ-line variant classifications in ClinVar.

Genet Med 2017 10 1;19(10):1118-1126. Epub 2017 Jun 1.

Invitae, San Francisco, California, USA.

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http://dx.doi.org/10.1038/gim.2017.60DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5632819PMC
October 2017

Clinical Genetics Testing Laboratories Have a Remarkably Low Rate of Clinically Significant Discordance When Interpreting Variants in Hereditary Cancer Syndrome Genes.

J Clin Oncol 2017 04 30;35(11):1259-1261. Epub 2017 Jan 30.

Robert L. Nussbaum, Invitae Corporation and University of California San Francisco, San Francisco, CA; and Shan Yang and Stephen E. Lincoln, Invitae Corporation, San Francisco, CA.

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http://dx.doi.org/10.1200/JCO.2016.70.9451DOI Listing
April 2017

Pollitt syndrome patients carry mutation in TTDN1.

Meta Gene 2014 Dec 30;2:616-8. Epub 2014 Aug 30.

Department of Bioinformatics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.mgene.2014.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287846PMC
December 2014

Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.

J Clin Oncol 2014 Jul 14;32(19):2001-9. Epub 2014 Apr 14.

Allison W. Kurian, Meredith A. Mills, Kerry E. Kingham, Lisa McPherson, Alice S. Whittemore, Valerie McGuire, Uri Ladabaum, James M. Ford, Stanford University School of Medicine, Stanford; Emily E. Hare, Yuya Kobayashi, Stephen E. Lincoln, Michele Cargill, InVitae, San Francisco, CA.

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http://ascopubs.org/doi/10.1200/JCO.2013.53.6607
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http://dx.doi.org/10.1200/JCO.2013.53.6607DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067941PMC
July 2014

Type 2 diabetes risk alleles demonstrate extreme directional differentiation among human populations, compared to other diseases.

PLoS Genet 2012 12;8(4):e1002621. Epub 2012 Apr 12.

Division of Systems Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1002621DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3325177PMC
September 2012