Zobrazeno 1 - 10 of 10 pro vyhledávání: '"Laura M Melroy"'
1
Akademický článek
Detecting clinically actionable variants in the 3′ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene
Autor: Genevieve M Gould, Peter V Grauman, Mark R Theilmann, Lindsay Spurka, Irving E Wang, Laura M Melroy, Robert G Chin, Dustin H Hite, Clement S Chu, Jared R Maguire, Gregory J Hogan, Dale Muzzey
Publikováno v: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-13 (2018)
Abstract Background Hereditary cancer screening (HCS) for germline variants in the 3′ exons of PMS2, a mismatch repair gene implicated in Lynch syndrome, is technically challenging due to homology with its pseudogene PMS2CL. Sequences of PMS2 and P
Externí odkaz: https://doaj.org/article/ccfcf68da84140cda2157d12caa3e872
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2
Temporal and spatial variation in population structure among brooding sea stars in the genus Leptasterias
Autor: C. Sarah Cohen, Laura M. Melroy
Publikováno v: Ecology and Evolution
Ecology and Evolution, Vol 11, Iss 7, Pp 3313-3331 (2021)
Temporal genetic studies of low‐dispersing organisms are rare. Marine invertebrates lacking a planktonic larval stage are expected to have lower dispersal, low gene flow, and a higher potential for local adaptation than organisms with planktonic di
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f64d53e5eba3eeaeac992d9c7b2559a6
http://europepmc.org/articles/PMC8019026
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3
Software-Assisted Manual Review of Clinical Next-Generation Sequencing Data
Autor: Kaylene Ready, Kevin R. Haas, Piotr Kaleta, Laura M. Melroy, Shera Kash, Kelly A. Pierce, Dale Muzzey, Hyunseok Kang, Jillian I. Johnson
Publikováno v: The Journal of Molecular Diagnostics. 21:296-306
Clinical genomic tests increasingly use a next-generation sequencing (NGS) platform due in part to the high fidelity of variant calls, yet rare errors are still possible. In germline DNA screening, failure to correct such errors could have serious co
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d4297d1513d3c842893c8301a7b10817
https://doi.org/10.1016/j.jmoldx.2018.10.002
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4
Detecting clinically actionable variants in the 3’ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene
Autor: Genevieve M. Gould, Laura M. Melroy, Peter V. Grauman, Gregory J. Hogan, Clement Chu, Irving E Wang, Jared Maguire, Dustin H Hite, Robert Chin, Lindsay Spurka, Mark R. Theilmann, Dale Muzzey
Publikováno v: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-13 (2018)
BMC Medical Genetics
BackgroundHereditary cancer screening (HCS) for germline variants in the 3’ exons of PMS2, a mismatch repair gene implicated in Lynch syndrome, is technically challenging due to homology with its pseudogene PMS2CL. Sequences of PMS2 and PMS2CL are
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89e0c33a7addd7498b8c887ffc679c23
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5
Software-Assisted Manual Review of Clinical Next-Generation Sequencing Data: An Alternative to Routine Sanger Sequencing Confirmation with Equivalent Results in15,000 Germline DNA Screens
Autor: Dale, Muzzey, Shera, Kash, Jillian I, Johnson, Laura M, Melroy, Piotr, Kaleta, Kelly A, Pierce, Kaylene, Ready, Hyunseok P, Kang, Kevin R, Haas
Publikováno v: The Journal of molecular diagnostics : JMD. 21(2)
Clinical genomic tests increasingly use a next-generation sequencing (NGS) platform due in part to the high fidelity of variant calls, yet rare errors are still possible. In germline DNA screening, failure to correct such errors could have serious co
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d8594ba36d4b6105e4f7e7985ccdf23a
https://pubmed.ncbi.nlm.nih.gov/30529126
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6
Software-assisted manual review of clinical NGS data: an alternative to routine Sanger sequencing confirmation with equivalent results in >15,000 hereditary cancer screens
Autor: Kaylene Ready, Kevin R. Haas, H. Peter Kang, Kelly A. Pierce, Piotr Kaleta, Laura M. Melroy, Dale Muzzey, Shera Kash, Jillian I. Johnson
Clinical genomic tests increasingly utilize a next generation sequencing (NGS) platform due in part to the high fidelity of variant calls, yet rare errors are still possible. In hereditary cancer screening, failure to correct such errors could have s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7429cb0051ce2cf0c994cb67df308a1e
https://doi.org/10.1101/305011
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9
Phylogeography of direct-developing sea stars in the genus Leptasterias in relation to San Francisco Bay outflow in central California
Autor: Laura M. Melroy, Riley J. Smith, C. Sarah Cohen
Publikováno v: Marine Biology. 164
Genetic structure in the marine environment can show patterns consistent with expectations of life history, geography, and ocean circulation. Organisms with direct development often have low dispersal rates and high potential for local adaptation. Le
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d4e856a85c3fb3f8199b9b8497cc78db
https://doi.org/10.1007/s00227-017-3184-z
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10
Akademický článek
Temporal and spatial variation in population structure among brooding sea stars in the genus Leptasterias
Autor: Laura M. Melroy, C. Sarah Cohen
Publikováno v: Ecology and Evolution, Vol 11, Iss 7, Pp 3313-3331 (2021)
Abstract Temporal genetic studies of low‐dispersing organisms are rare. Marine invertebrates lacking a planktonic larval stage are expected to have lower dispersal, low gene flow, and a higher potential for local adaptation than organisms with plan
Externí odkaz: https://doaj.org/article/ccfe2b87fcfb4732a1a4b19ef24216fd
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