Gábor Marth

Baylor College of Medicine — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

60h-index196.2kcitations231works4.72yr avg
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Research Topics

Genomics and Rare Diseases(57), Cancer Genomics and Diagnostics(55), Genomics and Phylogenetic Studies(50), Genomic variations and chromosomal abnormalities(25), Molecular Biology Techniques and Applications(20)

Publications183 total

Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data
2025· 1 citedOpen Access
Single-cell RNA sequencing in Hirschsprung’s disease tissues reveals lack of neuronal differentiation in the aganglionic colon segment
2025Open Access
The Somatic Mosaicism across Human Tissues Network
Nature·2025· 28 citedOpen Access
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
2025· 1 citedOpen Access
The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit
npj Genomic Medicine·2025· 1 citedOpen Access
Abstract B044: Deep learning-based integration of tumor omics and functional drug screening for precision treatment selection in high-risk and metastatic breast tumors
Cancer Research·2025
Long-read single-cell RNA sequencing enables the study of cancer subclone-specific genotypes and phenotypes in chronic lymphocytic leukemia
Genome Research·2025· 2 citedOpen Access
O15: SimPheny: Automated patient matching for genetic diagnosis in rare disease cohorts
Genetics in Medicine Open·2025Open Access
P257: ClinVar-based reanalysis in the UDN cohort
Genetics in Medicine Open·2025Open Access
A precision oncology-focused deep learning framework for personalized selection of cancer therapy
2024· 1 citedOpen Access
Clonal dynamics of aggressive systemic mastocytosis on avapritinib therapy
Blood Cancer Journal·2024Open Access
Abstract 907: ScreenDL: A transfer learning framework integrating tumor omics and functional drug screening for personalized clinical drug response prediction
Cancer Research·2024
Long-read single-cell RNA sequencing enables the study of cancer subclone-specific genotype and phenotype in chronic lymphocytic leukemia
2024Open Access
Differences in molecular sampling and data processing explain variation among single-cell and single-nucleus RNA-seq experiments
Genome Research·2024· 10 citedOpen Access
A Bayesian framework to study tumor subclone–specific expression by combining bulk DNA and single-cell RNA sequencing data
Genome Research·2024· 4 citedOpen Access
P207: Phenotype-driven algorithms for enhanced rare disease diagnostics
Genetics in Medicine Open·2024Open Access
Single-Cell Long-Read Sequencing Enables the Dissection of BTK Subclonal Dynamics in CLL Treatment
Blood·2023· 1 cited
quickBAM: a parallelized BAM file access API for high-throughput sequence analysis informatics
Bioinformatics·2023· 2 citedOpen Access
Abstract 4295: Streamlining the reconstruction of subclonal evolution in DNA sequencing data
Cancer Research·2023
P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care
Genetics in Medicine Open·2023· 2 citedOpen Access
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Frequent Co-authors

Aaron R. Quinlan(14), Paul Flicek(12), Richard A. Gibbs(10), Robert E. Handsaker(9), Charles Lee(8), Laura Clarke(8), Gonçalo R. Abecasis(7), Richard Durbin(7), Andrew G. Clark(7), Evan E. Eichler(7), Jan O. Korbel(7), Stephen T. Sherry(7), Donna M. Muzny(7), Xiangqun Zheng-Bradley(7), Erik Garrison(7), Pui–Yan Kwok(7), Michael P. Strömberg(7), Andrew Farrell(7), Alistair Ward(7), David Bentley(6)