المؤلفون: Rong Chen, Erik Corona, Martin Sikora, Joel T Dudley, Alex A Morgan, Andres Moreno-Estrada, Geoffrey B Nilsen, David Ruau, Stephen E Lincoln, Carlos D Bustamante, Atul J Butte

المصدر: PLoS Genetics, Vol 8, Iss 4, p e1002621 (2012)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3325177?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/7d17f3c0a15f4fcb806550a0a2cb0fcc

المؤلفون: Whitney Espinel, Marjan Champine, Heather Hampel, Joanne Jeter, Kevin Sweet, Robert Pilarski, Rachel Pearlman, Kate Shane, Pamela Brock, Judith A. Westman, Lindsay Kipnis, Jilliane Sotelo, Anu Chittenden, Samantha Culver, Jill E. Stopfer, Katherine A. Schneider, Rosalba Sacca, Diane R. Koeller, Shraddha Gaonkar, Erica Vaccari, Sarah Kane, Scott T. Michalski, Shan Yang, Sarah M. Nielsen, Sara L. Bristow, Stephen E. Lincoln, Robert L. Nussbaum, Edward D. Esplin

المصدر: Cancers ; Volume 14 ; Issue 10 ; Pages: 2426

مصطلحات موضوعية: genetic testing, DNA damage repair, moderate-risk genes, clinical utility, breast cancer, ovarian cancer, clinical management

وصف الملف: application/pdf

Relation: Cancer Informatics and Big Data; https://dx.doi.org/10.3390/cancers14102426

الاتاحة: https://doi.org/10.3390/cancers14102426

المؤلفون: Kristy R. Crooks, Kelly D. Farwell Hagman, Diana Mandelker, Avni Santani, Ryan J. Schmidt, Robyn L. Temple-Smolkin, Stephen E. Lincoln

المصدر: The Journal of Molecular Diagnostics.

مصطلحات موضوعية: Molecular Medicine, Pathology and Forensic Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d4c45af596762a47c98238ec0e574f79
https://doi.org/10.1016/j.jmoldx.2023.03.012

المؤلفون: Pauline C. Ng, Axel M. Hillmer, Patrick Tan, Thomas D. Barber, Geoffrey B. Nilsen, Jason M. Laramie, Dennis G. Ballinger, Stephen E. Lincoln, Brock A. Peters, Daniel S.W. Tan, Christoph Reinhard, Shenli Zhang, Kun Yu, Joanna H.J. Tan, Yuhao Lin, Gary S.L. Loh, Xiwen Ma, Hui-Hoon Chua, Yong G. Yue, Audrey S.M. Teo, Swee-Seong Wong, Elaine Lim, Jason C. Ting, Philip J. Ebert, Vidhya G. Krishnan

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45dce352d0eaf466ce951ada5f494ef6
https://doi.org/10.1158/0008-5472.22401582.v1

المؤلفون: Pauline C. Ng, Axel M. Hillmer, Patrick Tan, Thomas D. Barber, Geoffrey B. Nilsen, Jason M. Laramie, Dennis G. Ballinger, Stephen E. Lincoln, Brock A. Peters, Daniel S.W. Tan, Christoph Reinhard, Shenli Zhang, Kun Yu, Joanna H.J. Tan, Yuhao Lin, Gary S.L. Loh, Xiwen Ma, Hui-Hoon Chua, Yong G. Yue, Audrey S.M. Teo, Swee-Seong Wong, Elaine Lim, Jason C. Ting, Philip J. Ebert, Vidhya G. Krishnan

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51477059a67d33d12c240560c586f66c
https://doi.org/10.1158/0008-5472.22401579.v1

المؤلفون: Pauline C. Ng, Axel M. Hillmer, Patrick Tan, Thomas D. Barber, Geoffrey B. Nilsen, Jason M. Laramie, Dennis G. Ballinger, Stephen E. Lincoln, Brock A. Peters, Daniel S.W. Tan, Christoph Reinhard, Shenli Zhang, Kun Yu, Joanna H.J. Tan, Yuhao Lin, Gary S.L. Loh, Xiwen Ma, Hui-Hoon Chua, Yong G. Yue, Audrey S.M. Teo, Swee-Seong Wong, Elaine Lim, Jason C. Ting, Philip J. Ebert, Vidhya G. Krishnan

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5be768aae2c157cef8b067bfc6eec390
https://doi.org/10.1158/0008-5472.c.6505890

المؤلفون: Pauline C. Ng, Axel M. Hillmer, Patrick Tan, Thomas D. Barber, Geoffrey B. Nilsen, Jason M. Laramie, Dennis G. Ballinger, Stephen E. Lincoln, Brock A. Peters, Daniel S.W. Tan, Christoph Reinhard, Shenli Zhang, Kun Yu, Joanna H.J. Tan, Yuhao Lin, Gary S.L. Loh, Xiwen Ma, Hui-Hoon Chua, Yong G. Yue, Audrey S.M. Teo, Swee-Seong Wong, Elaine Lim, Jason C. Ting, Philip J. Ebert, Vidhya G. Krishnan

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a845a616e2bc05351e5429df3d688fd
https://doi.org/10.1158/0008-5472.22401588.v1

المؤلفون: Megan H. Cleveland, Shazia Mahamdallie, Brian H. Shirts, Stephen F. Kingsmore, Nazneen Rahman, Eric W. Klee, Farol L. Tomson, Swaroop Aradhya, Kathryn E. Hatchell, Wasanthi DeSilva, Sara L. Bristow, Tina Hambuch, Sheila Seal, Michael Kennemer, Matthew J. Ferber, Shimul Chowdhury, Peter M. Vallone, Andrew Fellowes, Russell Garlick, Justin M. Zook, Robert L. Nussbaum, Yan Ding, Rebecca Truty, Marc L. Salit, Catherine Huang, Stephen E. Lincoln

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, business.industry, Medical laboratory, High-Throughput Nucleotide Sequencing, Pilot Projects, Computational biology, Biology, Article, Human genetics, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, INDEL Mutation, Clinical genetic, Humans, Medicine, Hereditary Cancer, Genetic Testing, Child, Indel, Carrier screening, business, 030217 neurology & neurosurgery, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cba13623212faa2e5f9782daac0df4e0
https://doi.org/10.1038/s41436-021-01187-w

المؤلفون: Shan Yang, Melissa Cline, Can Zhang, Benedict Paten, Stephen E Lincoln

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://psb.stanford.edu/psb-online/proceedings/psb17/yang.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1075.3985; http://psb.stanford.edu/psb-online/proceedings/psb17/yang.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1075.3985
http://psb.stanford.edu/psb-online/proceedings/psb17/yang.pdf

المؤلفون: Heidi L. Rehm, Stephen E. Lincoln, Matthew S. Lebo, Vincent H. Ramey, Chiao-Feng Lin, Rebecca Truty, Marc L. Salit, Justin M. Zook, Joshua S. Paul, Robert L. Nussbaum

المصدر: The Journal of molecular diagnostics : JMD

مصطلحات موضوعية: 0301 basic medicine, Computer science, Machine learning, computer.software_genre, Article, DNA sequencing, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, False positive paradox, Clinical genetic, Humans, Genetic Testing, business.industry, Extramural, Genetic Variation, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, 3. Good health, 030104 developmental biology, 030220 oncology & carcinogenesis, Molecular Medicine, Artificial intelligence, business, computer, Orthogonal method, True positive rate, Algorithms

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24221f9d491dfde63c4ef6d2b83086ab
https://doi.org/10.1016/j.jmoldx.2018.10.009

المؤلفون: Karen H. Miga, Christopher E. Mason, Aaron M. Wenger, Arkarachai Fungtammasan, Yiming Zhu, Nathan D. Olson, Justin M. Zook, David Jáspez, Sayed Mohammad Ebrahim Sahraeian, Haoyu Cheng, William J Rowell, Chunlin Xiao, Giuseppe Narzisi, Lindsay Harris, Aishwarya Pisupati, Justin Wagner, Byunggil Yoo, Wayne E. Clarke, Joyce V. Lee, Fritz J. Sedlazeck, Chen-Shan Chin, Richa Gupta, Yih-Chii Hwang, Alaina Shumate, José M. Lorenzo-Salazar, Jesse Farek, Carlos Flores, Jennifer McDaniel, Uday Shanker Evani, Heng Li, Stephen E Lincoln, Danny E. Miller, Luis A. Rubio-Rodríguez, Medhat Mahmoud, Adrián Muñoz-Barrera, Ziad Khan, Mark T. W. Ebbert

مصطلحات موضوعية: Benchmark (computing), Variation (game tree), Computational biology, Biology, Indel, Gene, Genome, Method development, DNA sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::babb05888afcf9ebf6df1646e472ede3
https://doi.org/10.1101/2021.06.07.444885

المؤلفون: Justin Wagner, Nathan D. Olson, Lindsay Harris, Jennifer McDaniel, Haoyu Cheng, Arkarachai Fungtammasan, Yih-Chii Hwang, Richa Gupta, Aaron M. Wenger, William J. Rowell, Ziad M. Khan, Jesse Farek, Yiming Zhu, Aishwarya Pisupati, Medhat Mahmoud, Chunlin Xiao, Byunggil Yoo, Sayed Mohammad Ebrahim Sahraeian, Danny E. Miller, David Jáspez, José M. Lorenzo-Salazar, Adrián Muñoz-Barrera, Luis A. Rubio-Rodríguez, Carlos Flores, Giuseppe Narzisi, Uday Shanker Evani, Wayne E. Clarke, Joyce Lee, Christopher E. Mason, Stephen E. Lincoln, Karen H. Miga, Mark T. W. Ebbert, Alaina Shumate, Heng Li, Chen-Shan Chin, Justin M. Zook, Fritz J. Sedlazeck

المصدر: Nature biotechnology. 40(5)

مصطلحات موضوعية: Haplotypes, Genome, Human, Biomedical Engineering, Molecular Medicine, Humans, Bioengineering, Sequence Analysis, DNA, Applied Microbiology and Biotechnology, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98a75f3e207bc303243096f9c9f72192
https://pubmed.ncbi.nlm.nih.gov/35132260

المؤلفون: Shan Yang, Daniel E. Pineda-Alvarez, Scott T. Michalski, Edward D. Esplin, Stephen E Lincoln

المصدر: Cancer Research. 80:P6-08

مصطلحات موضوعية: Cancer Research, education.field_of_study, medicine.diagnostic_test, business.industry, Population, Cancer, medicine.disease, Germline mutation, Breast cancer, Oncology, Cohort, medicine, Family history, education, business, CHEK2, Genetic testing, Demography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e561d0e848048218fccabf857cc658a0
https://doi.org/10.1158/1538-7445.sabcs19-p6-08-19

المؤلفون: Robbie Evans, Edward D. Esplin, Stephen E Lincoln, Shan Yang, Scott T. Michalski, Erin O’Leary, Jennifer E. Axilbund, Robert L. Nussbaum

المصدر: Annals of Surgical Oncology. 25:2925-2931

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Genes, BRCA2, Genes, BRCA1, MEDLINE, Medicare, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Surgical oncology, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Diagnostic Errors, Young adult, Family history, Aged, Retrospective Studies, Genetic testing, Aged, 80 and over, medicine.diagnostic_test, business.industry, Patient Selection, Genetic variants, Retrospective cohort study, Middle Aged, medicine.disease, United States, Treatment Outcome, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, Hereditary Breast and Ovarian Cancer Syndrome, Female, Surgery, business, Ovarian cancer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10d757e914901ed42035226bcd391462
https://doi.org/10.1245/s10434-018-6621-4

المؤلفون: Michael Kennemer, Joshua S. Paul, Stephen E Lincoln, Eric Olivares, Swaroop Aradhya, Rebecca Truty, Robert L. Nussbaum

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system diseases, DNA Copy Number Variations, Intragenic deletion/duplication copy-number variant, 030105 genetics & heredity, Biology, Mendelian disease, Pathogenic variation prevalence, Article, 03 medical and health sciences, Exon, Next-generation sequencing panel, Gene panel, mental disorders, medicine, Humans, Genetic Predisposition to Disease, Copy-number variation, Genetic Testing, Gene, Genetics (clinical), Genetic Association Studies, Genetic testing, Disease gene, Genetics, Comparative Genomic Hybridization, medicine.diagnostic_test, Genetic Diseases, Inborn, High-Throughput Nucleotide Sequencing, Exons, 030104 developmental biology, Normal variation, Phenotype, Diagnostic genetic testing, Structural variant

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0229c2ffe90d22f29cb389776500a01
http://europepmc.org/articles/PMC6752305

المؤلفون: Eve Karloski, Randall E. Brand, Federico A. Monzon, Nathan Bahary, Beth Dudley, Aatur D. Singhi, Stephen E Lincoln

المصدر: Cancer. 124:1691-1700

مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Cancer, medicine.disease, Lynch syndrome, 03 medical and health sciences, Prostate cancer, 030104 developmental biology, 0302 clinical medicine, Germline mutation, 030220 oncology & carcinogenesis, Internal medicine, Pancreatic cancer, medicine, Adenocarcinoma, Ovarian cancer, business, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0fcc5f81c6d41e12e1f440d923503b6e
https://doi.org/10.1002/cncr.31242

المؤلفون: Karl V. Voelkerding, Mrudula Pullambhatla, Eric W. Klee, Alexis B. Carter, Robyn L. Temple-Smolkin, Stephen E Lincoln, Chen Wang, Christopher Coldren, Arivarasan Karunamurthy, Annette Leon, Nefize S. Kip, Somak Roy

المصدر: The Journal of Molecular Diagnostics. 20:4-27

مصطلحات موضوعية: 0301 basic medicine, Computer science, Molecular pathology, business.industry, Association (object-oriented programming), Best practice, MEDLINE, Bioinformatics, Pipeline (software), Health informatics, Pathology and Forensic Medicine, Unmet needs, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Molecular Medicine, Disease management (health), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c0025f6c0f72605e25bd7014472f7585
https://doi.org/10.1016/j.jmoldx.2017.11.003

المؤلفون: Can Zhang, Scott Topper, Benedict Paten, Stephen E Lincoln, David Haussler, Melissa S. Cline, Shan Yang, Robert L. Nussbaum, Yuya Kobayashi

المصدر: JCO precision oncology, vol 1, iss 1

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, medicine.medical_specialty, business.industry, Cancer predisposition, Prevention, Genetic counseling, Concordance, MEDLINE, Bioinformatics, Article, 03 medical and health sciences, Consistency (database systems), 030104 developmental biology, 0302 clinical medicine, Oncology, 030220 oncology & carcinogenesis, Family medicine, Genetics, medicine, 2.1 Biological and endogenous factors, Medical genetics, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb96e2d15025a504c204771073d3a3c1
https://doi.org/10.1200/po.16.00020

المؤلفون: Keith Nykamp, Shan Yang, Yuya Kobayashi, Stephen E Lincoln, Robert L. Nussbaum, Scott Topper

المصدر: Genetics in Medicine

مصطلحات موضوعية: concordance, 0301 basic medicine, Polymorphism, Genetic, Quality assessment, data sharing, variant interpretation, Concordance, MEDLINE, Genetic variants, Genetic Variation, ClinVar, Computational biology, clinical genetic testing, Biology, Pathogenicity, Clinical Practice, 03 medical and health sciences, Germ Cells, 030104 developmental biology, Databases, Genetic, Humans, Genetic Testing, Original Research Article, Erratum, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d3c68ecebd3cc82adf26472326d6813
https://doi.org/10.1038/gim.2017.60

المؤلفون: R Truty, Marc L. Salit, Stephen E Lincoln, S Aradhya, Robert L. Nussbaum, Justin M. Zook

المصدر: Cancer Research. 78:PD1-03

مصطلحات موضوعية: Cancer Research, Oncology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d2d4270418f22e07a68edbd7345420e3
https://doi.org/10.1158/1538-7445.sabcs17-pd1-03