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Author Details

Aaron R Quinlan
University of Utah
2007
84
39
Nathan Sheffield (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36161750Familial aggregation of stillbirth: A pedigree analysis of a matched case-control study.BJOG2023
37162999Epistasis between mutator alleles contributes to germline mutation spectra variability in laboratory mice.bioRxiv2023
36640362Random allelic expression in the adult human body.Cell Rep2023
36800380Whole-genome sequencing analysis in families with recurrent pregnancy loss: A pilot study.PLoS One2023
34864893trfermikit: a tool to discover VNTR-associated deletions.Bioinformatics2022
35396485Searching thousands of genomes to classify somatic and novel structural variants using STIX.Nat Methods2022
35811191Integrating Precision Medicine into the Standard of Care for Male Infertility: What Will it Take?Eur Urol2022
35618956Author Correction: Searching thousands of genomes to classify somatic and novel structural variants using STIX.Nat Methods2022
36517892STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci.Genome Biol2022
36477201Extensive Recombination-driven Coronavirus Diversification Expands the Pool of Potential Pandemic Pathogens.Genome Biol Evol2022
36069526Poxviruses capture host genes by LINE-1 retrotransposition.Elife2022
36384437Annotation of structural variants with reported allele frequencies and related metrics from multiple datasets using SVAFotate.BMC Bioinformatics2022
36376793Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies.BMC Bioinformatics2022
35119225Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.Mol Genet Genomic Med2022
34146087Unfazed: parent-of-origin detection for large and small de novo variants.Bioinformatics2021
35462723A systematic review to guide future efforts in the determination of genetic causes of pregnancy loss.Front Reprod Health2021
35936573Balancing efficient analysis and storage of quantitative genomics data with the D4 format and d4tools.Nat Comput Sci2021
33771218OncoGEMINI: software for investigating tumor variants from multiple biopsies with integrated cancer annotations.Genome Med2021
33846313Go Get Data (GGD) is a framework that facilitates reproducible access to genomic data.Nat Commun2021
33564759Extensive recombination-driven coronavirus diversification expands the pool of potential pandemic pathogens.bioRxiv2021
33830997CaBagE: A Cas9-based Background Elimination strategy for targeted, long-read DNA sequencing.PLoS One2021
34153142Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screening.Hum Mutat2021
34034781Samplot: a platform for structural variant visual validation and automated filtering.Genome Biol2021
32479598Regulatory sharing between estrogen receptor α bound enhancers.Nucleic Acids Res2020
32004313XPRESSyourself: Enhancing, standardizing, and automating ribosome profiling computational analyses yields improved insight into data.PLoS Comput Biol2020
32561805Germline mutation rates in young adults predict longevity and reproductive lifespan.Sci Rep2020
30531870A map of constrained coding regions in the human genome.Nat Genet2019
31549960Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation.Elife2019
31222198Duphold: scalable, depth-based annotation and curation of high-confidence structural variant calls.Gigascience2019
31019089Overlooked roles of DNA damage and maternal age in generating human germline mutations.Proc Natl Acad Sci U S A2019
29096012Mosdepth: quick coverage calculation for genomes and exomes.Bioinformatics2018
29860504SV-plaudit: A cloud-based framework for manually curating thousands of structural variants.Gigascience2018
30156554Long read sequencing reveals poxvirus evolution through rapid homogenization of gene arrays.Elife2018
29873782Coloc-stats: a unified web interface to perform colocalization analysis of genomic features.Nucleic Acids Res2018
30224649Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes.Nat Genet2018
30109124Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy.NPJ Genom Med2018
30545852Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.Science2018
29700473An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.Nat Genet2018
29718142hts-nim: scripting high-performance genomic analyses.Bioinformatics2018
29402882Publisher Correction: Combating subclonal evolution of resistant cancer phenotypes.Nat Commun2018
29431738Nanopore sequencing and assembly of a human genome with ultra-long reads.Nat Biotechnol2018
29309061GIGGLE: a search engine for large-scale integrated genome analysis.Nat Methods2018
29029884Identification of ATIC as a Novel Target for Chemoradiosensitization.Int J Radiat Oncol Biol Phys2018
28804138Settling the score: variant prioritization and Mendelian disease.Nat Rev Genet2017
30333632A parallel algorithm for <i>N</i>-way interval set intersection.Proc IEEE Inst Electr Electron Eng2017
28165109cyvcf2: fast, flexible variant analysis with Python.Bioinformatics2017
28190455Who's Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy.Am J Hum Genet2017
29048539Indexcov: fast coverage quality control for whole-genome sequencing.Gigascience2017
29093439Combating subclonal evolution of resistant cancer phenotypes.Nat Commun2017
27250555Vcfanno: fast, flexible annotation of genetic variants.Genome Biol2016
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Collaborators

Brent S Pedersen
Center for Molecular Medicine, University Medical Center Utrecht
Co-authored papers 27
Ryan M Layer
Boulder and BioFrontiers Institute, University of Colorado Boulder
Co-authored papers 19
Patrick Concannon
Co-authored papers 6
Lynn B Jorde
University of Utah School of Medicine
Co-authored papers 5
Stephen S Rich
Co-authored papers 4
Suna Onengut-Gumuscu
Co-authored papers 4
Nicholas J Loman
University of Birmingham
Co-authored papers 4
Hilary Coon
Co-authored papers 4
Nels C Elde
University of Utah School of Medicine
Co-authored papers 4
Jason Gertz
Huntsman Cancer Institute, University of Utah
Co-authored papers 3
Richard A Gatti
Co-authored papers 3
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Co-authored papers 3
Sharon N Teraoka
Co-authored papers 3
Mark J Daly
Massachusetts General Hospital
Co-authored papers 3
Andrew Farrell
Utah Center for Genetic Discovery, University of Utah
Co-authored papers 3
Mark Yandell
University of Utah
Co-authored papers 2
Lambertus Klei
Co-authored papers 2
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Co-authored papers 2
Stephen R Piccolo
Brigham Young University
Co-authored papers 2
Fritz J Sedlazeck
Baylor College of Medicine
Co-authored papers 2
Arthur Jeremy Willsey
University of California san francisco
Co-authored papers 2
Kathryn Roeder
Co-authored papers 2
Josyf C Mychaleckyj
Co-authored papers 2
Deborah A Nickerson
University of Washington
Co-authored papers 2
Stephan J Sanders
Co-authored papers 2
Joel S Parker
Lineberger Cancer Center, University of North Carolina
Co-authored papers 2
Laura M Heiser
Oregon Health Sciences University
Co-authored papers 2
Bernie Devlin
Co-authored papers 2
Donna M Werling
Co-authored papers 2
Joseph D Buxbaum
Icahn School of Medicine at Mount Sinai
Co-authored papers 2
Release 1.2