RG
Richard A. Gibbs
MutationGenome, HumanGenetic VariationGenomeExomeGenomicsEvolution, MoleculargenomicsPolymorphism, Single NucleotideSequence Analysis, DNA
On Valency
published · living versionsW_26xzgw86·v1 · currentpublished
Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species
with Keith R. Bradnam, Joseph N. Fass, Anton Alexandrov, Paul Baranay +86
1 version
Preprints & journals
817 papers in the corpus · 1987–2026Detecting low-allele-fraction mosaic mutations: A multi-institution benchmarking with cell-line mixtures.42880247 · Ha, Yoo-Jin Jiny, Maziec, Dominika, Markowski, Julia et al.2026 · 0 citationsCell genomics. 2026:101390
From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangement Underlying a Severe Neurodevelopmental Disorder.42926673 · Dardas, Zain, Du, Haowei, Calame, Daniel G et al.2026 · 0 citationsResearch square. 2026
Integrated Clinical-Genomic Reanalysis Identifies Diagnostic Gaps and Candidate Genes in a Pediatric Rare Disease Cohort.42856589 · Gu, Hyunjung, Sabo, Aniko, Jangam, Sharayu V et al.2026 · 0 citationsmedRxiv : the preprint server for health sciences. 2026
Recommendations for return of secondary genomic findings in observational cohort studies.42728385 · Kullo, Iftikhar J, Horowitz, Carol R, Bastarache, Lisa et al.2026 · 0 citationsNature genetics. 2026;58(10):2437-2447
Mapping the causal chain from genetic risk variants to lipid dysmetabolism in Parkinson's disease.41627849 · De-Paula, Ruth B, Kim, Jonggeol, Rhinn, Herve et al.2026 · 4 citationsBrain : a journal of neurology. 2026;149(9):3119-3133
Cost-efficient long-read trio-barcoded adaptive sequencing improves rare disease diagnosis.42838976 · Fu, Yilei, English, Adam C, Paulin, Luis F et al.2026 · 0 citationsNature communications. 2026;17(1)
Comprehensive characterization of genomic, transcriptomic and epigenomic artifacts introduced in formalin-fixed, paraffin-embedded tissues.42922699 · Zmuda, Erik J, Covington, Kyle R, Kandoth, Cyriac et al.2026 · 0 citationsbioRxiv : the preprint server for biology. 2026
Unveiling the Hidden Rules: Enhancing NMD Prediction for Protein-Truncating Variants.42427729 · Egab, Iman, Schmidt, Jacob, Cortázar, Michael et al.2026 · 0 citationsbioRxiv : the preprint server for biology. 2026
Evolutionary dynamics of Respiratory Syncytial Virus in pre-pandemic, pandemic, and post-pandemic periods in Houston, Texas, USA.42367941 · Avadhanula, Vasanthi, Agustinho, Daniel P, Sahni, Leila C et al.2026 · 0 citationsbioRxiv : the preprint server for biology. 2026
Somatic variant detection in normal tissues from single-cell sequencing data.42327286 · Luo, Rui, Wang, Ziyi, Dou, Jinzhuang et al.2026 · 0 citationsbioRxiv : the preprint server for biology. 2026
Multi-Omics Characterization of Human Molecular Responses to Spaceflight Across Two Independent Missions.42282662 · Santhanam, Abirami, Momin, Zeineen, Qin, Xiang et al.2026 · 1 citationbioRxiv : the preprint server for biology. 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.42151417 · Rius, Rocio, Blakes, Alexander J M, Chen, Yuyang et al.2026 · 0 citationsNature genetics. 2026;58(6):1447
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.42239344 · Heavner, B D, Wheeler, M M, Bengtsson, J D et al.2026 · 1 citationbioRxiv : the preprint server for biology. 2026
An integrated cardiometabolic genetic testing program in a predominantly Hispanic population within a community setting.42104850 · Yuan, Bo, Abushamat, Layla A, Pereira, Stacey et al.2026 · 0 citationsGenetics in medicine : official journal of the American College of Medical Genetics. 2026;28(7):102595
Whole genome sequencing analysis of over 3500 individuals dementia-free over 85 years old.42024100 · Peloso, Gina M, Wang, Dongyu, Abbruzzese, Sabrina M et al.2026 · 0 citationsJournal of Alzheimer's disease : JAD. 2026;111(4):1772-1782
Widespread distribution of Alu/Alu-mediated genomic rearrangement predisposing to a broad range of Mendelian disease and cancer in human populations.41923117 · Duan, Ruizhi Vince, Du, Haowei, Pande, Shruti et al.2026 · 1 citationGenome medicine. 2026;18(1)
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.41951959 · Rius, Rocio, Blakes, Alexander J M, Chen, Yuyang et al.2026 · 10 citationsNature genetics. 2026;58(4):761-773
PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.41959779 · Calame, Daniel G, Wiener, Emma K, Gavazzi, Francesco et al.2026 · 1 citationmedRxiv : the preprint server for health sciences. 2026
The Genomics and Genetics of Rare Disease Illuminate Human Biology.41780058 · Lupski, James R, Gibbs, Richard A2026 · 0 citationsAnnual review of genomics and human genetics. 2026;27(1):21-42
Comparison of variant callers using 60 532 multi-ancestry whole genome sequences.41894165 · Zhou, Hufeng, Li, Zilin, Shyr, Derek et al.2026 · 0 citationsBriefings in bioinformatics. 2026;27(2)
Double Mosaicism in Xia-Gibbs Syndrome.41738116 · Hu, Jianhong, Dawood, Moez, Mehta, Heer Hemant et al.2026 · 1 citationAmerican journal of medical genetics. Part A. 2026;200(7):1657-1661
Performance Characteristics of Reasoning Large Language Models for Evidence Extraction from Clinical Genomics Literature10.64898/2026.02.18.26346543v1 · Murugan, M., Yuan, B., Stephen, J. et al.2026 · 0 citationsmedRxiv
The impact of genetic testing on physician practice in specialized cardiovascular clinics.41702822 · Hamid, Arsalan, Sewell, Tyler, Bhatt, Sucheta et al.2026 · 0 citationsJournal of clinical lipidology. 2026;20(3):677-681
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.41544630 · Levine, Jesse M, Calame, Daniel G, Sangermano, Riccardo et al.2026 · 2 citationsAmerican journal of human genetics. 2026;113(2):362-379
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families.41470026 · Du, Haowei, Lun, Ming Yin, Gagarina, Lidiia et al.2026 · 3 citationsGenome medicine. 2025;18(1):16
Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families.41503485 · Beheshti, Shaghayegh T, Jolly, Angad, Saad, Ahmed K et al.2026 · 1 citationmedRxiv : the preprint server for health sciences. 2025
Benchmarking of duplex sequencing approaches to reveal somatic mutation landscapes.41446189 · Zhang, Yang, Viswanadham, Vinayak V, Andreopoulos, Michail et al.2026 · 2 citationsbioRxiv : the preprint server for biology. 2025
Expanding the Genome in a Bottle Truth Set: Detection and Validation of Novel Low-frequency Variants Using High-accuracy NanoSeq.41573841 · Zhang, Yang, Chao, Hsu, Niu, Muchun et al.2026 · 0 citationsbioRxiv : the preprint server for biology. 2025
Constellation illuminates rare disease genetics.41282657 · Cheng, Siyuan, Zhang, Qing, Zheng, Xinchang et al.2025 · 2 citationsmedRxiv : the preprint server for health sciences. 2025
Enriching for Answers in Rare Diseases.41282751 · Fu, Yilei, English, Adam C, Paulin, Luis F et al.2025 · 1 citationmedRxiv : the preprint server for health sciences. 2025
Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data.41278982 · Jiny Ha, Yoo-Jin, Maziec, Dominika, Markowski, Julia et al.2025 · 3 citationsbioRxiv : the preprint server for biology. 2025
Population-scale Long-read Sequencing in the All of Us Research Program.41256123 · Garimella, Kiran V, Li, Qiuhui, Wertz, Julie et al.2025 · 6 citationsmedRxiv : the preprint server for health sciences. 2025
Association of genetic scores related to insulin resistance with neurological outcomes in ancestrally diverse cohorts from the Trans-Omics for Precision Medicine (TOPMed) program.40993182 · Sarnowski, Chloé, Zhang, Yixin, Ammous, Farah et al.2025 · 1 citationCommunications biology. 2025;8(1):1352
Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals.40926209 · Selvaraj, Margaret Sunitha, Li, Xihao, Li, Zilin et al.2025 · 2 citationsGenome biology. 2025;26(1):273
Pre-sequencing assessment of RNA-Seq library quality using real-time qPCR.41293783 · Kottapalli, Kavya, Chao, Hsu, Jiang, Qi et al.2025 · 1 citationBioTechniques. 2025;77(9-10):319-329
Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes10.1101/2025.08.13.25333306v1 · Rius, R., Blakes, A. J., Chen, Y. et al.2025 · 5 citationsmedRxiv
Mapping the causal chain from genetic risk variants to lipid dysmetabolism in Parkinsons disease10.1101/2025.07.14.25331535v1 · DePaula, R., Kim, J., Rhinn, H. et al.2025 · 1 citationmedRxiv
Complete genomic characterization of global pathogens respiratory syntical virus and human norovirus using probe based capture enrichment.40594045 · Bhamidipati, Sravya V, Surathu, Anil, Chao, Hsu et al.2025 · 1 citationScientific reports. 2025;15(1):20526
The Somatic Mosaicism across Human Tissues Network.40604182 · Coorens, Tim H H, Oh, Ji Won, Choi, Yujin Angelina et al.2025 · 79 citationsNature. 2025;643(8070):47-59
Domain specific phenotypic expansion associated with variants in MACF1.40666329 · Gogate, Nikhita, Jolly, Angad, Rosenfeld, Jill A et al.2025 · 1 citationmedRxiv : the preprint server for health sciences. 2025
Whole genome sequence association analysis of brain structural volume measures in the NHLBI TOPMed Program highlights novel loci in diverse participants.40568677 · Shade, Lincoln Mp, Sharifitabar, Mohsen, Beiser, Alexa et al.2026 · 0 citationsmedRxiv : the preprint server for health sciences. 2025
Proteogenomic analysis of the CALGB 40601 (Alliance) HER2+ breast cancer neoadjuvant trial reveals resistance biomarkers.40480221 · Jaehnig, Eric J, Fernandez-Martinez, Aranzazu, Vashist, Tanmayi D et al.2025 · 3 citationsCell reports. Medicine. 2025;6(6):102154
The SHR/Akr Y chromosome reveals repeated turnover of the rat pseudoautosomal region.40501880 · Bellott, Daniel W, Skaletsky, Helen, Hughes, Jennifer F et al.2025 · 2 citationsbioRxiv : the preprint server for biology. 2025
The GENESTAR manual for biospecimen collection biobanking and omics data generation from commercial space missions.40368955 · Krishnavajhala, Aparna, Gingras, Marie-Claude, Urquieta, Emmanuel et al.2025 · 5 citationsNPJ microgravity. 2025;11(1):16
Celeste: A cloud-based genomics infrastructure with variant-calling pipeline suited for population-scale sequencing projects.40343041 · Siddiqui, Noora, Lee, Breanna, Yi, Victoria et al.2025 · 0 citationsmedRxiv : the preprint server for health sciences. 2025
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.40267907 · Dardas, Zain, Harrold, Laura, Calame, Daniel G et al.2025 · 9 citationsAmerican journal of human genetics. 2025;112(5):1139-1157
Genome-wide association study and multi-ancestry meta-analysis identify common variants associated with carotid artery intima-media thickness.40321265 · Meena, Devendra, Huang, Jian, Zare, Marjan et al.2025 · 4 citationsmedRxiv : the preprint server for health sciences. 2025
Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia.39763555 · Li, Runjia, Taliun, Sarah A Gagliano, Liao, Kevin et al.2025 · 1 citationmedRxiv : the preprint server for health sciences. 2025
Genomic Data and Privacy.39749498 · Myers, Candace T, Kumar, Runjun D, Pilgram, Lisa et al.2026 · 2 citationsClinical chemistry. 2025;71(1):10-17
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.39696717 · Pehlivan, Davut, Bengtsson, Jesse D, Bajikar, Sameer S et al.2024 · 19 citationsGenome medicine. 2024;16(1):146
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