المؤلفون: Holt, James M, Wilk, Brandon, Birch, Camille L, Brown, Donna M, Gajapathy, Manavalan, Moss, Alexander C, Sosonkina, Nadiya, Wilk, Melissa A, Anderson, Julie A, Harris, Jeremy M, Kelly, Jacob M, Shaterferdosian, Fariba, Uno-Antonison, Angelina E, Weborg, Arthur, Worthey, Elizabeth A

المصدر: BMC Bioinformatics. 20(1)

مصطلحات موضوعية: Genetics, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Algorithms, Genetic Diseases, Inborn, Genetic Predisposition to Disease, Genome, Human, Genomics, Humans, Mutation, Phenotype, Polymorphism, Genetic, Precision Medicine, Rare Diseases, Retrospective Studies, Sequence Analysis, DNA, Software, Clinical genome sequencing, Variant prioritization, Binary classification, Undiagnosed Diseases Network, Mathematical Sciences, Biological Sciences, Information and Computing Sciences, Bioinformatics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2w13c735

المؤلفون: Shafin, Kishwar

مصطلحات موضوعية: Bioinformatics, Biomedical engineering, Clinical genome sequencing, Genome inference, Genome sequencing, Human genome analysis, Human genome variation, Whole genome sequencing

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5gs105kg

المؤلفون: Dona M. Kanavy, Shannon M. McNulty, Meera K. Jairath, Sarah E. Brnich, Chris Bizon, Bradford C. Powell, Jonathan S. Berg

المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-19 (2019)

مصطلحات موضوعية: Clinical genome resource, Clinical exome sequencing, Clinical genome sequencing, Functional assays, Variant interpretation, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/953cd458b6704122b1525cfebd52050e

المؤلفون: James M. Holt, Brandon Wilk, Camille L. Birch, Donna M. Brown, Manavalan Gajapathy, Alexander C. Moss, Nadiya Sosonkina, Melissa A. Wilk, Julie A. Anderson, Jeremy M. Harris, Jacob M. Kelly, Fariba Shaterferdosian, Angelina E. Uno-Antonison, Arthur Weborg, Undiagnosed Diseases Network, Elizabeth A. Worthey

المصدر: BMC Bioinformatics, Vol 20, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Clinical genome sequencing, Variant prioritization, Binary classification, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12859-019-3026-8; https://doaj.org/toc/1471-2105

URL الوصول: https://doaj.org/article/f2c1bb0577154d0199fe50d36a271be4

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المؤلفون: Jacobs, Chris^{Aff5, Aff6}, Pichert, Gabriella^Aff7

المساهمون: Schlag, Peter M., Series editor^Aff1, Senn, Hans-Jörg, Series editor^Aff2, Pichert, Gabriella, editor^Aff3, Jacobs, Chris, editor^Aff4

المصدر: Rare Hereditary Cancers : Diagnosis and Management. 205:213-226

المؤلفون: Kanavy, Dona M., McNulty, Shannon M., Jairath, Meera K., Brnich, Sarah E., Bizon, Chris, Powell, Bradford C., Berg, Jonathan S.^Aff1

المصدر: Genome Medicine. 11(1)

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المؤلفون: Kota Itahashi, Shunsuke Kondo, Takashi Kubo, Yutaka Fujiwara, Mamoru Kato, Hitoshi Ichikawa, Takahiko Koyama, Reitaro Tokumasu, Jia Xu, Claudia S. Huettner, Vanessa V. Michelini, Laxmi Parida, Takashi Kohno, Noboru Yamamoto

المصدر: Frontiers in Medicine, Vol 5 (2018)

مصطلحات موضوعية: clinical genome sequencing, genome sequencing interpretation, artificial intelligence, watson for genomics, precision medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fmed.2018.00305/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/b49bf6e0ca22418cb9b1ead6e2362286

المؤلفون: Meera K. Jairath, Sarah E. Brnich, Chris Bizon, Bradford C. Powell, Jonathan S. Berg, Shannon M. McNulty, Dona M. Kanavy

المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-19 (2019)
Genome Medicine

مصطلحات موضوعية: Functional assay, medicine.medical_specialty, lcsh:QH426-470, Computer science, Process (engineering), Systems biology, Clinical genome sequencing, lcsh:Medicine, Genomics, Computational biology, Disease, 03 medical and health sciences, Consistency (database systems), 0302 clinical medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Functional studies, Genetic Testing, Molecular Biology, Expert Testimony, Genetics (clinical), Variant interpretation, 030304 developmental biology, Functional assays, 0303 health sciences, Mechanism (biology), Research, lcsh:R, Disease Management, Genetic Variation, Human genetics, Clinical exome sequencing, lcsh:Genetics, 030220 oncology & carcinogenesis, Practice Guidelines as Topic, Molecular Medicine, Medical genetics, Disease Susceptibility, Medical Informatics, Software, Clinical genome resource

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8ad7485e9a1ddf2479db2fdba976cd9
https://doaj.org/article/953cd458b6704122b1525cfebd52050e