المؤلفون: David E. Goldgar, Sophie Belman, Bing Jian Feng, Amanda B. Spurdle, Michael T. Parsons

المصدر: Genetics in Medicine. 22:2052-2059

مصطلحات موضوعية: 0301 basic medicine, education.field_of_study, medicine.medical_specialty, medicine.diagnostic_test, Cosegregation, Computer science, Population, Genomics, Bayes factor, Computational biology, 030105 genetics & heredity, Penetrance, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, medicine, Mendelian inheritance, symbols, Medical genetics, education, Genetics (clinical), Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2a129a0602a7b38340a9e49f5b0eb484Test
https://doi.org/10.1038/s41436-020-0920-4Test

المؤلفون: Colin Mackenzie, Colin C. Young, Sean V. Tavtigian, Yukihide Momozawa, Elodie Girard, Elad Ziv, Fabienne Lesueur, Donglei Hu, Bing Jian Feng, Susan L. Neuhausen, Yusuke Iwasaki

مصطلحات موضوعية: medicine.medical_specialty, Breast cancer, In silico, Multiple comparisons problem, medicine, Missense mutation, Medical genetics, Genomics, Computational biology, Biology, medicine.disease, CHEK2, Sequence (medicine)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6de57b1d363618497743a147afbce7eTest

المؤلفون: Bing Jian Feng

المصدر: Human Mutation. 38:243-251

مصطلحات موضوعية: 0301 basic medicine, Phenocopy, Genetics, medicine.diagnostic_test, Pedigree chart, Computational biology, Biology, Penetrance, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Missing heritability problem, Quality Score, Mutation (genetic algorithm), medicine, Allele frequency, 030217 neurology & neurosurgery, Genetics (clinical), Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::511cccd206e494b3a9a3b27e910dc44dTest
https://doi.org/10.1002/humu.23158Test

المؤلفون: Heather Thorne, Bing Jian Feng, Igor V. Makunin, Jonathan Ellis, Melissa C. Southey, kConFab Investigators, Ian G. Campbell, Jun Li, David E. Goldgar, Huong Meeks, Sue Healey, Judy Kirk, David Clouston, Georgia Chenevix-Trench, Gillian Mitchell

المصدر: Journal of Medical Genetics. 53:34-42

مصطلحات موضوعية: Male, 0301 basic medicine, Genotype, PALB2, Genes, BRCA2, Genes, BRCA1, Biology, Bioinformatics, Article, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Breast cancer, Biomarkers, Tumor, Odds Ratio, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, skin and connective tissue diseases, CHEK2, Genetic Association Studies, Germ-Line Mutation, Genetics (clinical), Genetic testing, Ovarian Neoplasms, Massive parallel sequencing, medicine.diagnostic_test, Computational Biology, High-Throughput Nucleotide Sequencing, Exons, medicine.disease, Pedigree, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Hereditary Breast and Ovarian Cancer Syndrome, Female, Ovarian cancer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43d19eaae6d784d350863c11b21f0658Test
https://doi.org/10.1136/jmedgenet-2015-103452Test

المؤلفون: Noralane M. Lindor, Edwin S. Iversen, Hermela Shimelis, Abigail Thomas, Alvaro Montiero, Steven N. Hart, Bing Jian Feng, Tanya L. Hoskin, Vera J. Suman, David E. Goldgar, Fergus N Couch, Raymond Moore

مصطلحات موضوعية: Annotation, Sequence, endocrine system diseases, Computer science, Cancer predisposition, Missense mutation, Computational biology, skin and connective tissue diseases, Pathogenicity, Gene, Predictive modelling

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a186d696c168096b492bcdc55068157Test
https://doi.org/10.1101/103762Test

المؤلفون: Bing-Jian, Feng

المصدر: Human mutation. 38(3)

مصطلحات موضوعية: Quantitative Trait, Heritable, ROC Curve, Computational Biology, Humans, Reproducibility of Results, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genetic Association Studies, Software, Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::091ecada9bccdfc591c92a01167a5b50Test
https://pubmed.ncbi.nlm.nih.gov/27995669Test

المؤلفون: M. Safaee, Michael Milliken, David E. Goldgar, Gerald G. Krueger, Jason E. Hawkes, Jessica A. Walsh, Kristina Callis Duffin, Bing Jian Feng

المصدر: Journal of Investigative Dermatology. 136:B9

مصطلحات موضوعية: business.industry, Psoriasis, medicine, Pedigree chart, Cell Biology, Dermatology, Computational biology, medicine.disease, business, Molecular Biology, Biochemistry, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::93c08165ebda0bb55f93687db991fdafTest
https://doi.org/10.1016/j.jid.2016.05.054Test

المؤلفون: Amanda B. Spurdle, Chloe Tessereau, Erin L. Young, Sean D. Mooney, Kenneth M. Boucher, Alun Thomas, Bing Jian Feng, Marc S. Greenblatt, Maxime Vallée, Bryony A. Thompson, Thierry Frebourg, Shamil R. Sunyaev, Predrag Radivojac, David E. Goldgar, Robert M.W. Hofstra, Sean V. Tavtigian, Biao Li, Ivan Adzhubey, Russell Bell, Johanna C. Herkert, Rolf H. Sijmons

المساهمون: Epidemiology, Clinical Genetics, Science in Healthy Ageing & healthcaRE (SHARE), Ethical, Legal, Social Issues in Genetics (ELSI), Guided Treatment in Optimal Selected Cancer Patients (GUTS)

المصدر: Human Mutation, 34(1), 255-265. Wiley-Liss Inc.
Human Mutation, 34(1), 255-265. Wiley

مصطلحات موضوعية: probability of pathogenicity, DNA Mismatch Repair, DISEASE, 0302 clinical medicine, SEQUENCE VARIANTS, PMS2, Missense mutation, Genetics (clinical), Mismatch Repair Endonuclease PMS2, Genetics, Adenosine Triphosphatases, PROTEIN FUNCTION, 0303 health sciences, UNKNOWN CLINICAL-SIGNIFICANCE, Nuclear Proteins, NONPOLYPOSIS COLORECTAL-CANCER, Lynch syndrome, 3. Good health, DNA-Binding Proteins, mismatch repair, MutS Homolog 2 Protein, in silico, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Calibration, Regression Analysis, DNA mismatch repair, MutL Protein Homolog 1, congenital, hereditary, and neonatal diseases and abnormalities, In silico, Mutation, Missense, Biology, LYNCH-SYNDROME, CLASSIFICATION, Article, 03 medical and health sciences, SDG 3 - Good Health and Well-being, medicine, Humans, Genetic Predisposition to Disease, ALGORITHM, 030304 developmental biology, Adaptor Proteins, Signal Transducing, MUTATIONS, missense substitutions, Computational Biology, Reproducibility of Results, Bayes Theorem, BRCA1, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, MSH6, DNA Repair Enzymes, MSH2

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef732b9703b8de3f3478db15a40695a7Test
https://pure.eur.nl/en/publications/bff25b8b-1c79-47b0-9318-4bea50865622Test

المؤلفون: Melissa C. Southey, David E. Goldgar, Sean V. Tavtigian, Bing Jian Feng

المصدر: PLoS ONE
PLoS ONE, Vol 6, Iss 8, p e23221 (2011)

مصطلحات موضوعية: Candidate gene, Genotype, Epidemiology, lcsh:Medicine, Pedigree chart, Biology, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Genetics, Humans, Genetic Predisposition to Disease, Genome Sequencing, lcsh:Science, Exome, Exome sequencing, Alleles, 030304 developmental biology, 0303 health sciences, Multidisciplinary, Massive parallel sequencing, Genetic heterogeneity, lcsh:R, Computational Biology, High-Throughput Nucleotide Sequencing, Genomics, Genetic architecture, Phenotype, Genetic Epidemiology, Genetics of Disease, Medicine, lcsh:Q, 030217 neurology & neurosurgery, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee24204222699e22b1a9d3e1d071809aTest
http://europepmc.org/articles/PMC3151293Test