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Benchmarking challenging small variants with linked and long reads J Wagner, ND Olson, L Harris, Z Khan, J Farek, M Mahmoud, A Stankovic, ... Cell Genomics 2 (5), 2022 | 119 | 2022 |
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The functional impact of rare variation across the regulatory cascade T Li, N Ferraro, BJ Strober, F Aguet, S Kasela, M Arvanitis, B Ni, L Wiel, ... Cell Genomics 3 (10), 2023 | 3 | 2023 |
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Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes R Keener, SB Chhetri, CJ Connelly, MA Taub, MP Conomos, J Weinstock, ... Nature Communications 15 (1), 4417, 2024 | | 2024 |
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease TD Jensen, B Ni, CM Reuter, JE Gorzynski, S Fazal, D Bonner, RA Ungar, ... medRxiv, 2024 | | 2024 |
Validation of human telomere length trans-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as novel human telomere length regulation genes R Keener, SB Chhetri, CJ Connelly, MA Taub, MP Conomos, ... bioRxiv, 2023.07. 12.548702, 2023 | | 2023 |