Publications by authors named "Gabor Marth"

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An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser.
Isabelle B Cooperstein, Shruti Marwaha, Alistair Ward, Shilpa N Kobren, Jennefer N Carter, Gabor T Marth

Genome Med· October 2025

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Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data.
Yoo-Jin Jiny Ha, Dominika Maziec, Julia Markowski, Stephanie J Georges, Nancy L Parmalee, Gabor T Marth

bioRxiv· October 2025

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The Somatic Mosaicism across Human Tissues Network.
Tim H H Coorens, Ji Won Oh, Yujin Angelina Choi, Nam Seop Lim, Boxun Zhao, Gabor Marth

Nature· July 2025

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Single-cell RNA sequencing in Hirschsprung's disease tissues reveals lack of neuronal differentiation in the aganglionic colon segment.
Szabolcs Tarapcsak, Xiaomeng Huang, Yi Qiao, Andrew Farrell, Lija Mammen, Gabor T Marth

bioRxiv· July 2025

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Long-read single-cell RNA sequencing enables the study of cancer subclone-specific genotypes and phenotypes in chronic lymphocytic leukemia.
Gage S Black, Xiaomeng Huang, Yi Qiao, Philip Moos, Deepa Sampath, Gabor T Marth

Genome Res· April 2025

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The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit.
Sabrina Malone Jenkins, Rachel N Palmquist, Barry Moore, Steven E Boyden, Thomas J Nicholas, Gabor T Marth

NPJ Genom Med· March 2025

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A precision oncology-focused deep learning framework for personalized selection of cancer therapy.
Casey Sederman, Chieh-Hsiang Yang, Emilio Cortes-Sanchez, Tony Di Sera, Xiaomeng Huang, Gabor T Marth

bioRxiv· December 2024

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Clonal dynamics of aggressive systemic mastocytosis on avapritinib therapy.
Xiaomeng Huang, Anthony D Pomicter, Jonathan Ahmann, Yi Qiao, Opal S Chen, Gabor T Marth

Blood Cancer J· October 2024

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Differences in molecular sampling and data processing explain variation among single-cell and single-nucleus RNA-seq experiments.
John T Chamberlin, Younghee Lee, Gabor T Marth, Aaron R Quinlan

Genome Res· March 2024

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Long-read single-cell RNA sequencing enables the study of cancer subclone-specific genotype and phenotype in chronic lymphocytic leukemia.
Gage S Black, Xiaomeng Huang, Yi Qiao, Philip Moos, Deepa Sampath, Gabor T Marth

bioRxiv· March 2024

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A Bayesian framework to study tumor subclone-specific expression by combining bulk DNA and single-cell RNA sequencing data.
Yi Qiao, Xiaomeng Huang, Philip J Moos, Jonathan M Ahmann, Anthony D Pomicter, Gabor T Marth

Genome Res· February 2024

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quickBAM: a parallelized BAM file access API for high-throughput sequence analysis informatics.
Anders Pitman, Xiaomeng Huang, Gabor T Marth, Yi Qiao

Bioinformatics· August 2023

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Archetype tasks link intratumoral heterogeneity to plasticity and cancer hallmarks in small cell lung cancer.
Sarah M Groves, Geena V Ildefonso, Caitlin O McAtee, Patricia M M Ozawa, Abbie S Ireland, Gabor Marth

Cell Syst· September 2022

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Subclonal evolution of CLL driver mutations is associated with relapse in ibrutinib- and acalabrutinib-treated patients.
Gage S Black, Xiaomeng Huang, Yi Qiao, Szabolcs Tarapcsak, Kerry A Rogers, Gabor T Marth

Blood· July 2022

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Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
Thomas J Nicholas, Najla Al-Sweel, Andrew Farrell, Rong Mao, Pinar Bayrak-Toydemir, Gabor Marth

Mol Genet Genomic Med· April 2022

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Author Correction: Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.
Tonya Di Sera, Matt Velinder, Alistair Ward, Yi Qiao, Stephanie Georges, Gabor Marth

Sci Rep· April 2022

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A human breast cancer-derived xenograft and organoid platform for drug discovery and precision oncology.
Katrin P Guillen, Maihi Fujita, Andrew J Butterfield, Sandra D Scherer, Matthew H Bailey, Gabor T Marth

Nat Cancer· February 2022

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: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics.
Alistair Ward, Matt Velinder, Tonya Di Sera, Aditya Ekawade, Sabrina Malone Jenkins, Gabor Marth

J Pers Med· January 2022

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The Extracellular Milieu of 's Lytic Cycle Drives Lab Adaptation, Primarily by Transcriptional Reprogramming.
Vincent A Primo, Yasaman Rezvani, Andrew Farrell, Connor Q Murphy, Jingjing Lou, Gabor T Marth

mSystems· December 2021

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Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.
Tonya Di Sera, Matt Velinder, Alistair Ward, Yi Qiao, Stephanie Georges, Gabor Marth

Sci Rep· October 2021

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Novel temporal and spatial patterns of metastatic colonization from breast cancer rapid-autopsy tumor biopsies.
Xiaomeng Huang, Yi Qiao, Samuel W Brady, Rachel E Factor, Erinn Downs-Kelly, Gabor T Marth

Genome Med· October 2021

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Mobile element insertions and associated structural variants in longitudinal breast cancer samples.
Cody J Steely, Kristi L Russell, Julie E Feusier, Yi Qiao, Sean V Tavtigian, Gabor Marth

Sci Rep· June 2021

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OncoGEMINI: software for investigating tumor variants from multiple biopsies with integrated cancer annotations.
Thomas J Nicholas, Michael J Cormier, Xiaomeng Huang, Yi Qiao, Gabor T Marth

Genome Med· March 2021

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ped_draw: pedigree drawing with ease.
Matt Velinder, Dillon Lee, Gabor Marth

BMC Bioinformatics· December 2020

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Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias.
Eric L Bogenschutz, Zac D Fox, Andrew Farrell, Julia Wynn, Barry Moore, Gabor Marth

HGG Adv· October 2020

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