Biomedical cloud computing with amazon web services VA Fusaro, P Patil, E Gafni, DP Wall, PJ Tonellato PLoS computational biology 7 (8), e1002147, 2011 | 179 | 2011 |
Machine learning enables detection of early-stage colorectal cancer by whole-genome sequencing of plasma cell-free DNA N Wan, D Weinberg, TY Liu, K Niehaus, EA Ariazi, D Delubac, A Kannan, ... BMC cancer 19, 1-10, 2019 | 138 | 2019 |
COSMOS: Python library for massively parallel workflows E Gafni, LJ Luquette, AK Lancaster, JB Hawkins, JY Jung, Y Souilmi, ... Bioinformatics 30 (20), 2956-2958, 2014 | 34 | 2014 |
Early Stage Colorectal Cancer Detection Using Artificial Intelligence and Whole-Genome Sequencing of Cell-Free DNA in a Retrospective Cohort of 1,040 Patients: 307 K Niehous, N Wan, B White, A Kannan, E Gafni, TY Liu, I Haque, G Putcha Official journal of the American College of Gastroenterology| ACG 113, S169, 2018 | 8 | 2018 |
Methods, systems and processes of identifying genetic variation in highly similar genes DJ Kvitek, E Gafni US Patent 10,395,760, 2019 | 5 | 2019 |
Evaluation of cfDNA as an early detection assay for dense tissue breast cancer M Barbirou, AA Miller, E Gafni, A Mezlini, A Zidi, N Boley, PJ Tonellato Scientific Reports 12 (1), 8458, 2022 | 3 | 2022 |
COSMOS: cloud enabled NGS analysis Y Souilmi, JY Jung, A Lancaster, E Gafni, S Amzazi, H Ghazal, D Wall, ... BMC Bioinformatics 16, 1-1, 2015 | 3 | 2015 |
Scalable detection of technically challenging variants through modified next‐generation sequencing S Rojahn, T Hambuch, J Adrian, E Gafni, A Gileta, H Hatchell, B Johnson, ... Molecular Genetics & Genomic Medicine 10 (12), e2072, 2022 | 2 | 2022 |
Multi-analyte profiling reveals relationships among circulating biomarkers in colorectal cancer D Delubac, E Ariazi, J Berliner, A Drake, J Dulin, R Ennis, E Gafni, ... Cancer Res Am Assoc Cancer Res 78, 2227, 2018 | 2 | 2018 |
Methods, systems and processes of identifying genetic variation in highly similar genes DJ Kvitek, E Gafni US Patent 11,610,646, 2023 | 1 | 2023 |
Methods, systems and processes of identifying genetic variations E Gafni, S Aradhya, L Matzat, E Olivares, V Kulkarni, J Paul US Patent 10,995,370, 2021 | 1 | 2021 |
Su1658–Machine Learning Enables Detection of Early-Stage Colorectal Cancer by Whole-Genome Sequencing of Plasma Cell-Free Dna N Wan, D Weinberg, T Liu, K Niehaus, D Delubac, A Kannan, B White, ... Gastroenterology 156 (6), S-600-S-601, 2019 | 1 | 2019 |
Methods, systems and processes of identifying genetic variations E Gafni, S Aradhya, L Matzat, E Olivares, V Kulkarni, J Paul US Patent App. 18/449,557, 2023 | | 2023 |
Methods, systems and processes of identifying genetic variations E Gafni, S Aradhya, L Matzat, E Olivares, V Kulkarni, J Paul US Patent 11,761,036, 2023 | | 2023 |
Cell-free DNA fragments inform epigenomic mechanisms for early detection of breast cancer E Gafni, A Harvey, A Jaroszewicz, OS Solari, J Landolin, M Barbirou, ... Cancer Research 81 (13_Supplement), 2105-2105, 2021 | | 2021 |
Predicting gene expression from plasma cell-free DNA using both the fragment length and fragment position J St John, E Gafni, B White, A Kannan, L Hansen, A Jaroszewicz, ... Cancer Research 79 (13), 2019 | | 2019 |
Machine learning enables detection of early-stage colorectal cancer by whole-genome N Wan, D Weinberg, T Liu, K Niehaus, E Ariazi, D Delubac, A Kannan, ... | | 2019 |
Tracing the dark matter: investigating the prevalence of exonic copy number and structural variants in Mendelian disorders S Aradhya, R Truty, J Paul, M Kennemer, E Gafni, S Fay, S Lincoln, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 631-631, 2018 | | 2018 |
Quantitative Determination of SMN2 Copy Number using Next Generation Sequencing and Correlation to Disease Severity (S5. 002) M Westbrook, D Kvitek, E Gafni, J Paul, M Kennemer, T Winder, P Shieh Neurology 90 (15 Supplement), 2018 | | 2018 |
Identification of Novel Gene Fusions in Malignant Peripheral Nerve Sheath Tumors using Paired-End Transcriptome Sequencing S Carroll, S Byer, Z Cai, CL Chi, CY Huang, E Gafni, C Murphy, K Ravvaz, ... JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY 72 (6), 575-575, 2013 | | 2013 |