Samplot: a platform for structural variant visual validation and automated filtering JR Belyeu, M Chowdhury, J Brown, BS Pedersen, MJ Cormier, ... Genome biology 22 (1), 1-13, 2021 | 68 | 2021 |
SA-SSR: a suffix array-based algorithm for exhaustive and efficient SSR discovery in large genetic sequences BD Pickett, SM Karlinsey, CE Penrod, MJ Cormier, MTW Ebbert, ... Bioinformatics 32 (17), 2707-2709, 2016 | 16 | 2016 |
Go Get Data (GGD) is a framework that facilitates reproducible access to genomic data MJ Cormier, JR Belyeu, BS Pedersen, J Brown, J Köster, AR Quinlan Nature Communications 12 (1), 2151, 2021 | 7 | 2021 |
Annotation of structural variants with reported allele frequencies and related metrics from multiple datasets using SVAFotate TJ Nicholas, MJ Cormier, AR Quinlan BMC bioinformatics 23 (1), 1-17, 2022 | 5 | 2022 |
Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies MJ Cormier, BS Pedersen, P Bayrak-Toydemir, AR Quinlan BMC bioinformatics 23 (1), 482, 2022 | 5 | 2022 |
Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia TJ Nicholas, N Al‐Sweel, A Farrell, R Mao, P Bayrak‐Toydemir, CE Miller, ... Molecular genetics & genomic medicine 10 (4), e1888, 2022 | 4 | 2022 |
OncoGEMINI: software for investigating tumor variants from multiple biopsies with integrated cancer annotations TJ Nicholas, MJ Cormier, X Huang, Y Qiao, GT Marth, AR Quinlan Genome Medicine 13 (1), 1-11, 2021 | 3 | 2021 |
Go Get Data (GGD): simple, reproducible access to scientific data MJ Cormier, JR Belyeu, BS Pedersen, J Brown, J Koster, AR Quinlan BioRxiv, 2020.09. 10.291377, 2020 | 3 | 2020 |
Splice Site Variant Analyzer: Determining the Pathogenicity of Splice Site Variants CE Sexton, ME Wadsworth, JB Miller, MJ Cormier, PG Ridge Journal of Biomedical Research and Practice 2 (1), 1-4, 2018 | 1 | 2018 |
Leveraging Genetic Constraint to Predict Neglected RNA Splicing in Rare Human Disease MJ Cormier The University of Utah, 2022 | | 2022 |