Bioconda: sustainable and comprehensive software distribution for the life sciences B Grüning, R Dale, A Sjödin, BA Chapman, J Rowe, CH Tomkins-Tinch, ... Nature methods 15 (7), 475-476, 2018 | 851 | 2018 |
Evidence for 28 genetic disorders discovered by combining healthcare and research data J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ... Nature 586 (7831), 757-762, 2020 | 400 | 2020 |
Molecular diagnostic yield of exome sequencing in patients with cerebral palsy A Moreno-De-Luca, F Millan, DR Pesacreta, HZ Elloumi, MT Oetjens, ... Jama 325 (5), 467-475, 2021 | 85 | 2021 |
Open Humans: A platform for participant-centered research and personal data exploration B Greshake Tzovaras, M Angrist, K Arvai, M Dulaney, ... GigaScience 8 (6), giz076, 2019 | 66 | 2019 |
Mobile element insertion detection in 89,874 clinical exomes RI Torene, K Galens, S Liu, K Arvai, C Borroto, J Scuffins, Z Zhang, ... Genetics in Medicine 22 (5), 974-978, 2020 | 55 | 2020 |
Germline pathogenic variants identified in women with ovarian tumors NJ Carter, ML Marshall, LR Susswein, KK Zorn, S Hiraki, KJ Arvai, ... Gynecologic oncology 151 (3), 481-488, 2018 | 52 | 2018 |
Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ... biorxiv, 797787, 2019 | 46 | 2019 |
Deciphering Developmental Disorders Study J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ... Evidence for 28, 757-762, 2020 | 26 | 2020 |
Differences in cancer prevalence among CHEK2 carriers identified via multi-gene panel testing EG Sutcliffe, AR Stettner, SA Miller, SR Solomon, ML Marshall, ... Cancer Genetics 246, 12-17, 2020 | 23 | 2020 |
K-Means Clustering in Python: A Practical Guide K Arvai Real Python, 2022 | 14 | 2022 |
Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer AB Thompson, EG Sutcliffe, K Arvai, ME Roberts, LR Susswein, ... Familial Cancer 21 (4), 415-422, 2022 | 11 | 2022 |
kneed (2020) K Arvai URL https://github.com/arvkevi/kneed, 2020 | 11* | 2020 |
Annotation of sequence variants in cancer samples: processes and pitfalls for routine assays in the clinical laboratory LA Lee, KJ Arvai, D Jones The Journal of Molecular Diagnostics 17 (4), 339-351, 2015 | 11 | 2015 |
Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls KJ Arvai, ME Roberts, RI Torene, LR Susswein, ML Marshall, Z Zhang, ... Hereditary Cancer in Clinical Practice 17, 1-7, 2019 | 9 | 2019 |
Abstract PD7-11: the role of multi-gene hereditary cancer panels in male patients with breast cancer KJ Vogel Postula, LM Andolina, K Theobald, AK McGill, E Sutcliffe, ... Cancer Research 78 (4_Supplement), PD7-11-PD7-11, 2018 | 5 | 2018 |
A transition zone showing highly discontinuous or alternating levels of stem cell and proliferation markers characterizes the development of PTEN-Haploinsufficient colorectal … KJ Arvai, YH Hsu, LA Lee, D Jones PloS one 10 (6), e0131108, 2015 | 4 | 2015 |
Fine tuning a classifier in scikit-learn K Arvai Towards Data Science 24, 2018 | 3 | 2018 |
Mad Price Ball.(2019) Open Humans: A platform for participant-centered research and personal data exploration BG Tzovaras, M Angrist, K Arvai, M Dulaney, V Estrada-Galiñanes, ... GigaScience 8 (6), 0 | 3 | |
Abstract P041: Improved sensitivity of a multi-analyte early detection test based on mutation, methylation, aneuploidy, and protein biomarkers V Gianullin, L Hagmann, K Arvai, A Djebbari, CL Nobles, L Hogstrom, ... Cancer Prevention Research 16 (1_Supplement), P041-P041, 2023 | 2 | 2023 |
Method and compositions for detecting an adenoma-adenocarcinoma transition in cancer D Jones, KJ Arvai, YH Hsu US Patent 12,000,831, 2024 | 1 | 2024 |