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Biotechnology Information ucsc goldenpath database
Ucsc Goldenpath Database, supplied by Biotechnology Information, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/ucsc+goldenpath+database/human+reference+genome/pmc04125351-50-23-68
Average 90 stars, based on 1 article reviews
ucsc goldenpath database - by Bioz Stars, 2026-09
90/100 stars

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Variant Assay:

Article Title: Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families
Article Snippet: .. Annotation, fitting genetic models, and filtering of each variant locus were performed using a custom locally developed software pipeline using data from the UCSC GoldenPath database ( http://hgdownload.cse.ucsc.edu/goldenPath/hg19/database/ ); the ESP6500 data set from the Exome Variant Server, National Heart, Lung, and Blood Institute Exome Sequencing Project (ESP; http://evs.gs.washington.edu/EVS/ ); the Institute of Systems Biology Kaviar (Known VARiants) database ( http://db.systemsbiology.net/kaviar/ ) 17 ; the National Center for Biotechnology Information dbSNP database ( http://www.ncbi.nlm.nih.gov/projects/SNP/ ) 18 build 137; and the 1000 Genomes Project ( http://www.1000genomes.org/ ). ..

Article Title: Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma
Article Snippet: .. Annotation, fitting genetic models, and filtering of each variant locus was performed using a locally-developed custom software pipeline which took use of public data from the UCSC GoldenPath database (http://hgdownload.cse.ucsc.edu/goldenPath/hg19/database/), the ESP6500 dataset from University of Washington’s Exome Sequencing Project (http://evs.gs.washington.edu/EVS/), the Institute of Systems Biology KAVIAR (Known VARiants) database 3 , the National Center for Biotechnology Information dbSNP database 4 build 137, and the 1000 Genomes Project 5 . ..

Software:

Article Title: Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families
Article Snippet: .. Annotation, fitting genetic models, and filtering of each variant locus were performed using a custom locally developed software pipeline using data from the UCSC GoldenPath database ( http://hgdownload.cse.ucsc.edu/goldenPath/hg19/database/ ); the ESP6500 data set from the Exome Variant Server, National Heart, Lung, and Blood Institute Exome Sequencing Project (ESP; http://evs.gs.washington.edu/EVS/ ); the Institute of Systems Biology Kaviar (Known VARiants) database ( http://db.systemsbiology.net/kaviar/ ) 17 ; the National Center for Biotechnology Information dbSNP database ( http://www.ncbi.nlm.nih.gov/projects/SNP/ ) 18 build 137; and the 1000 Genomes Project ( http://www.1000genomes.org/ ). ..

Article Title: Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma
Article Snippet: .. Annotation, fitting genetic models, and filtering of each variant locus was performed using a locally-developed custom software pipeline which took use of public data from the UCSC GoldenPath database (http://hgdownload.cse.ucsc.edu/goldenPath/hg19/database/), the ESP6500 dataset from University of Washington’s Exome Sequencing Project (http://evs.gs.washington.edu/EVS/), the Institute of Systems Biology KAVIAR (Known VARiants) database 3 , the National Center for Biotechnology Information dbSNP database 4 build 137, and the 1000 Genomes Project 5 . ..

Sequencing:

Article Title: Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families
Article Snippet: .. Annotation, fitting genetic models, and filtering of each variant locus were performed using a custom locally developed software pipeline using data from the UCSC GoldenPath database ( http://hgdownload.cse.ucsc.edu/goldenPath/hg19/database/ ); the ESP6500 data set from the Exome Variant Server, National Heart, Lung, and Blood Institute Exome Sequencing Project (ESP; http://evs.gs.washington.edu/EVS/ ); the Institute of Systems Biology Kaviar (Known VARiants) database ( http://db.systemsbiology.net/kaviar/ ) 17 ; the National Center for Biotechnology Information dbSNP database ( http://www.ncbi.nlm.nih.gov/projects/SNP/ ) 18 build 137; and the 1000 Genomes Project ( http://www.1000genomes.org/ ). ..

Article Title: Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma
Article Snippet: .. Annotation, fitting genetic models, and filtering of each variant locus was performed using a locally-developed custom software pipeline which took use of public data from the UCSC GoldenPath database (http://hgdownload.cse.ucsc.edu/goldenPath/hg19/database/), the ESP6500 dataset from University of Washington’s Exome Sequencing Project (http://evs.gs.washington.edu/EVS/), the Institute of Systems Biology KAVIAR (Known VARiants) database 3 , the National Center for Biotechnology Information dbSNP database 4 build 137, and the 1000 Genomes Project 5 . ..



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Biotechnology Information ucsc goldenpath database
Ucsc Goldenpath Database, supplied by Biotechnology Information, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/ucsc+goldenpath+database/human+reference+genome/pmc04125351-50-23-68
Average 90 stars, based on 1 article reviews
ucsc goldenpath database - by Bioz Stars, 2026-09
90/100 stars
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