JENNIFER POSEY to Software
This is a "connection" page, showing publications JENNIFER POSEY has written about Software.
Connection Strength
0.537
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An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families. Genome Med. 2025 Dec 31; 18(1):16.
Score: 0.170
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Improving automated deep phenotyping through large language models using retrieval-augmented generation. Genome Med. 2025 Aug 18; 17(1):91.
Score: 0.165
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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Res. 2024 Feb 28; 52(4):e18.
Score: 0.149
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PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data. Orphanet J Rare Dis. 2021 08 18; 16(1):365.
Score: 0.031
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A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Genome Med. 2016 Feb 02; 8(1):13.
Score: 0.021