{"id":"https://openalex.org/W7065160818","doi":"https://doi.org/10.1101/gr.995103","title":"Detection and Assignment of Mutations and Minihaplotypes in Human DNA Using Peptide Mass Signature Genotyping (PMSG): Application to the Human RDS/Peripherin Gene","display_name":"Detection and Assignment of Mutations and Minihaplotypes in Human DNA Using Peptide Mass Signature Genotyping (PMSG): Application to the Human RDS/Peripherin Gene","publication_year":2003,"publication_date":"2003-08-01","ids":{"openalex":"https://openalex.org/W7065160818","doi":"https://doi.org/10.1101/gr.995103","pmid":"https://pubmed.ncbi.nlm.nih.gov/12902384","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/403787"},"language":"en","primary_location":{"id":"doi:10.1101/gr.995103","doi":"https://doi.org/10.1101/gr.995103","is_oa":true,"landing_page_url":"https://doi.org/10.1101/gr.995103","pdf_url":"https://genome.cshlp.org/content/13/8/1944.full.pdf","source":{"id":"https://openalex.org/S43092948","display_name":"Genome Research","issn_l":"1088-9051","issn":["1088-9051","1549-5469"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1"],"host_organization":"https://openalex.org/P4310315909","host_organization_name":"Cold Spring Harbor Laboratory Press","host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genome Research","raw_type":"journal-article"},"volume":null,"type":"preprint","is_traditional":true,"indexed_in":["crossref","datacite","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://genome.cshlp.org/content/13/8/1944.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5061349447","display_name":"Cheryl A. Telmer","orcid":"https://orcid.org/0000-0002-7649-3134","observed_orcids":["https://orcid.org/0000-0002-7649-3134"]},"institutions":[{"id":"https://openalex.org/I4210163917","display_name":"SpectraGenetics (United States)","ror":"https://ror.org/05gwq9m97","country_code":"US","type":"company","lineage":["https://openalex.org/I4210163917"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cheryl A. Telmer","raw_affiliation_strings":["SpectraGenetics LLC, Pittsburgh, Pennsylvania 15213, USA. cheryl.telmer@spectragenetics.com"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"SpectraGenetics LLC, Pittsburgh, Pennsylvania 15213, USA. cheryl.telmer@spectragenetics.com","institution_ids":["https://openalex.org/I4210163917"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Adam R. Retchless","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210163917","display_name":"SpectraGenetics (United States)","ror":"https://ror.org/05gwq9m97","country_code":"US","type":"company","lineage":["https://openalex.org/I4210163917"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Adam R. Retchless","raw_affiliation_strings":["SpectraGenetics LLC. , Pittsburgh , Pennsylvania 15213 , USA;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"SpectraGenetics LLC. , Pittsburgh , Pennsylvania 15213 , USA;","institution_ids":["https://openalex.org/I4210163917"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045241252","display_name":"Ashley D. Kinsey","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210163917","display_name":"SpectraGenetics (United States)","ror":"https://ror.org/05gwq9m97","country_code":"US","type":"company","lineage":["https://openalex.org/I4210163917"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ashley D. Kinsey","raw_affiliation_strings":["SpectraGenetics LLC. , Pittsburgh , Pennsylvania 15213 , USA;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"SpectraGenetics LLC. , Pittsburgh , Pennsylvania 15213 , USA;","institution_ids":["https://openalex.org/I4210163917"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Yvette Conley","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I170201317","display_name":"University of Pittsburgh","ror":"https://ror.org/01an3r305","country_code":"US","type":"education","lineage":["https://openalex.org/I170201317"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yvette Conley","raw_affiliation_strings":["Department of Health Promotion and Development , University of Pittsburgh , Pittsburgh , Pennsylvania 15213 , USA","Department of Ophthalmology and Department of Human Genetics and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Health Promotion and Development , University of Pittsburgh , Pittsburgh , Pennsylvania 15213 , USA","institution_ids":["https://openalex.org/I170201317"]},{"raw_affiliation_string":"Department of Ophthalmology and Department of Human Genetics and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070954830","display_name":"Brian W. Rigatti","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Brian Rigatti","raw_affiliation_strings":["Department of Ophthalmology and Department of Human Genetics and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology and Department of Human Genetics and","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Michael B. Gorin","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Michael B. Gorin","raw_affiliation_strings":["Department of Ophthalmology and Department of Human Genetics and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology and Department of Human Genetics and","institution_ids":[]}]},{"author_position":"last","author":{"id":null,"display_name":"Jonathan W. Jarvik","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210163917","display_name":"SpectraGenetics (United States)","ror":"https://ror.org/05gwq9m97","country_code":"US","type":"company","lineage":["https://openalex.org/I4210163917"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jonathan W. Jarvik","raw_affiliation_strings":["SpectraGenetics LLC. , Pittsburgh , Pennsylvania 15213 , USA;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"SpectraGenetics LLC. , Pittsburgh , Pennsylvania 15213 , USA;","institution_ids":["https://openalex.org/I4210163917"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":6,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"13","issue":"8","first_page":"1944","last_page":"1951"},"is_retracted":false,"is_paratext":false,"is_xpac":true,"primary_topic":{"id":"https://openalex.org/T10683","display_name":"Mass Spectrometry Techniques and Applications","score":0.7939000129699707,"subfield":{"id":"https://openalex.org/subfields/1607","display_name":"Spectroscopy"},"field":{"id":"https://openalex.org/fields/16","display_name":"Chemistry"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}},"topics":[{"id":"https://openalex.org/T10683","display_name":"Mass Spectrometry Techniques and Applications","score":0.7939000129699707,"subfield":{"id":"https://openalex.org/subfields/1607","display_name":"Spectroscopy"},"field":{"id":"https://openalex.org/fields/16","display_name":"Chemistry"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.06989999860525131,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10519","display_name":"Advanced Proteomics Techniques and Applications","score":0.06729999929666519,"subfield":{"id":"https://openalex.org/subfields/1607","display_name":"Spectroscopy"},"field":{"id":"https://openalex.org/fields/16","display_name":"Chemistry"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/point-mutations","display_name":"point mutations","score":0.7350000143051147},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.9269999861717224},{"id":"https://openalex.org/keywords/splice-site-variant","display_name":"splice site mutation","score":0.8790000081062317},{"id":"https://openalex.org/keywords/intron-2","display_name":"intron 2","score":0.7429999709129333},{"id":"https://openalex.org/keywords/exon-3","display_name":"exon 3","score":0.8799999952316284},{"id":"https://openalex.org/keywords/mutation-detection","display_name":"mutation detection","score":0.5260000228881836}],"concepts":[{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.5473999977111816},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.5120999813079834},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4578000009059906},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4194999933242798},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4009999930858612},{"id":"https://openalex.org/C2779696439","wikidata":"https://www.wikidata.org/wiki/Q7512811","display_name":"Signature (topology)","level":2,"score":0.38449999690055847},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.3677000105381012},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.34439998865127563},{"id":"https://openalex.org/C2779281246","wikidata":"https://www.wikidata.org/wiki/Q172847","display_name":"Peptide","level":2,"score":0.34119999408721924},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3375000059604645},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3312000036239624},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.29760000109672546},{"id":"https://openalex.org/C49105822","wikidata":"https://www.wikidata.org/wiki/Q176996","display_name":"Polymerase chain reaction","level":3,"score":0.2816999852657318},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.27709999680519104},{"id":"https://openalex.org/C3017666073","wikidata":"https://www.wikidata.org/wiki/Q1764062","display_name":"Base sequence","level":3,"score":0.2587999999523163}],"mesh":[{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005136","descriptor_name":"Eye Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005136","descriptor_name":"Eye Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007381","descriptor_name":"Intermediate Filament Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007381","descriptor_name":"Intermediate Filament Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008562","descriptor_name":"Membrane Glycoproteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008562","descriptor_name":"Membrane Glycoproteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010455","descriptor_name":"Peptides","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010455","descriptor_name":"Peptides","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D012162","descriptor_name":"Retinal Degeneration","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019032","descriptor_name":"Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D064531","descriptor_name":"Peripherins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":8,"locations":[{"id":"doi:10.1101/gr.995103","doi":"https://doi.org/10.1101/gr.995103","is_oa":true,"landing_page_url":"https://doi.org/10.1101/gr.995103","pdf_url":"https://genome.cshlp.org/content/13/8/1944.full.pdf","source":{"id":"https://openalex.org/S43092948","display_name":"Genome Research","issn_l":"1088-9051","issn":["1088-9051","1549-5469"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1"],"host_organization":"https://openalex.org/P4310315909","host_organization_name":"Cold Spring Harbor Laboratory Press","host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genome Research","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:403787","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/403787","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genome Res","raw_type":"Text"},{"id":"pmid:12902384","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12902384","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genome research","raw_type":"Journal Article"},{"id":"pmh:qt0w80z7cf","doi":null,"is_oa":true,"landing_page_url":"http://www.escholarship.org/uc/item/0w80z7cf","pdf_url":"http://www.escholarship.org/uc/item/0w80z7cf","source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Gorin, MB; Telmer, CA; Retchless, AC; Kinsey, AD; Conley, Y; Rigatti, B; \u00c2\u00a0et al.(2003). Detection and assignment of mutations and minihaplotypes in human DNA using peptide mass signature genotyping (PMSG): application to the human RDS/peripherin gene.. UCLA: Retrieved from: http://www.escholarship.org/uc/item/0w80z7cf","raw_type":"article"},{"id":"pmh:oai:escholarship.org/ark:/13030/qt0w80z7cf","doi":null,"is_oa":false,"landing_page_url":"https://escholarship.org/uc/item/0w80z7cf","pdf_url":null,"source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"article"},{"id":"pmh:oai:figshare.com:article/6097661","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/journal_contribution/Detection_and_assignment_of_mutations_and_minihaplotypes_in_human_DNA_using_peptide_mass_signature_genotyping_PMSG_application_to_the_human_RDS_peripherin_gene_/6097661","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Text"},{"id":"doi:10.1184/r1/6097661","doi":"https://doi.org/10.1184/r1/6097661","is_oa":true,"landing_page_url":"https://doi.org/10.1184/r1/6097661","pdf_url":null,"source":{"id":"https://openalex.org/S7407050927","display_name":"KiltHub Repository","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I74973139","host_organization_name":"Carnegie Mellon University","host_organization_lineage":["https://openalex.org/I74973139"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"},{"id":"doi:10.1184/r1/6097661.v1","doi":"https://doi.org/10.1184/r1/6097661.v1","is_oa":true,"landing_page_url":"https://doi.org/10.1184/r1/6097661.v1","pdf_url":null,"source":{"id":"https://openalex.org/S7407050927","display_name":"KiltHub Repository","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I74973139","host_organization_name":"Carnegie Mellon University","host_organization_lineage":["https://openalex.org/I74973139"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"}],"best_oa_location":{"id":"doi:10.1101/gr.995103","doi":"https://doi.org/10.1101/gr.995103","is_oa":true,"landing_page_url":"https://doi.org/10.1101/gr.995103","pdf_url":"https://genome.cshlp.org/content/13/8/1944.full.pdf","source":{"id":"https://openalex.org/S43092948","display_name":"Genome Research","issn_l":"1088-9051","issn":["1088-9051","1549-5469"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1"],"host_organization":"https://openalex.org/P4310315909","host_organization_name":"Cold Spring Harbor Laboratory Press","host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genome Research","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.7246000170707703,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G4526405356","display_name":"Genetics of Age-Related Maculopathy","funder_award_id":"R01EY009859","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"},{"id":"https://openalex.org/G4608809652","display_name":"GENOTYPING BY PEPTIDE MASS SPECTROMETRY","funder_award_id":"R43GM060876","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G6461376535","display_name":null,"funder_award_id":"GM060876-01","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G8123444687","display_name":"Cancer Genotyping by Peptide Mass Spectrometry","funder_award_id":"R44GM060876","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"}],"funders":[{"id":"https://openalex.org/F4320306811","display_name":"Research to Prevent Blindness","ror":"https://ror.org/04drjs621"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337350","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7065160818.pdf","grobid_xml":"https://content.openalex.org/works/W7065160818.grobid-xml"},"referenced_works_count":10,"referenced_works":["https://openalex.org/W81185657","https://openalex.org/W1587813963","https://openalex.org/W1981291057","https://openalex.org/W2073051618","https://openalex.org/W2088224373","https://openalex.org/W2118094114","https://openalex.org/W2121114391","https://openalex.org/W2130683634","https://openalex.org/W2612327331","https://openalex.org/W4285719527"],"related_works":["https://openalex.org/W2065206215","https://openalex.org/W2145756842","https://openalex.org/W2403772566","https://openalex.org/W7100464937","https://openalex.org/W2088201998","https://openalex.org/W7096220944","https://openalex.org/W2054732818","https://openalex.org/W2044121849","https://openalex.org/W1259991921","https://openalex.org/W31815539"],"abstract_inverted_index":{"Peptide":[0],"mass-signature":[1],"genotyping":[2,7],"(PMSG)":[3],"is":[4,70],"a":[5,48],"scanning":[6],"method":[8,56],"that":[9,69,86,112],"identifies":[10],"mutations":[11,108],"and":[12,26,105,109],"polymorphisms":[13],"by":[14,34,117],"translating":[15],"the":[16,28,31,41,62,71,75,99],"sequence":[17],"of":[18,30,44,66,74,90,101],"interest":[19],"in":[20,61,83],"more":[21],"than":[22],"one":[23],"reading":[24],"frame":[25],"measuring":[27],"masses":[29],"resulting":[32],"peptides":[33],"mass":[35],"spectrometry.":[36],"PMSG":[37,102],"was":[38],"applied":[39],"to":[40],"RDS/peripherin":[42],"gene":[43],"16":[45],"individuals":[46],"from":[47],"family":[49],"exhibiting":[50],"autosomal":[51],"dominant":[52],"macular":[53],"degeneration.":[54],"The":[55],"revealed":[57,79],"an":[58],"A-->T":[59],"transversion":[60],"5'":[63],"splice":[64],"site":[65],"intron":[67],"2":[68],"likely":[72],"cause":[73],"disease.":[76],"It":[77],"also":[78],"four":[80,93],"different":[81,94],"minihaplotypes":[82,111],"exon":[84],"3":[85],"represent":[87],"particular":[88],"combinations":[89],"SNPs":[91],"at":[92],"locations.":[95],"This":[96],"study":[97],"demonstrates":[98],"utility":[100],"for":[103],"identifying":[104],"characterizing":[106],"point":[107],"local":[110],"are":[113],"not":[114],"readily":[115],"analyzed":[116],"other":[118],"approaches.":[119]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2015,"cited_by_count":1}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2025-10-10T00:00:00"}
