Follow
Michael Cormier, PhD
Michael Cormier, PhD
Fabric Genomics, Invitae, Utah Center for Genetic Discovery, University of Utah School of Medicine
Verified email at utah.edu
Title
Cited by
Cited by
Year
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
682021
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
162016
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
72021
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
52022
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
52022
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
42022
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
32021
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
32020
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
12018
Leveraging Genetic Constraint to Predict Neglected RNA Splicing in Rare Human Disease
MJ Cormier
The University of Utah, 2022
2022
The system can't perform the operation now. Try again later.
Articles 1–10