James Holt - HudsonAlpha Institute for Biotechnology

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论文共 47 篇作者统计合作学者相似作者

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Jointly Benchmarking Small and Structural Variant Calls with Vcfdist

Tim Dunn,Justin M. Zook,James M. Holt,Satish Narayanasamy

GENOME BIOLOGY（2024）

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P600: Pb-Starphase: A Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data

James Holt,John Harting,Nina Gonzaludo,Zev Kronenberg,Christopher T. Saunders, Michael A. Eberle

Genetics in medicine open (2024): 101506-101506

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The Platinum Pedigree: A Long-Read Benchmark for Genetic Variants

Zev Kronenberg, Cillian Nolan, Tom Mokveld,William J Rowell, Sangjin Lee,Egor Dolzhenko,Pi-Chuan Chang,James Matthew Holt, Christopher T Saunders, Nathanael D. Olson,Sean McGee,Andrea Guarracino, Nidhi Koundinya,William T Harvey,W. Scott Watkins,Katherine M Munson,Kendra Hoekzema, Khi Pin Chua, Cairbre Fanslow,Christine Lambert,Harriet Dashnow,Erik Garrison, Josh Smith,Peter Lansdorp,Justin M Zook,Andrew Carroll,Lynn B. Jorde,Deborah W Neklason,Aaron Quinlan,Evan Eichler, Michael A Eberle

biorxiv（2024）

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HiPhase: Jointly Phasing Small, Structural, and Tandem Repeat Variants from HiFi Sequencing

James M. Holt,Christopher T. Saunders,William J. Rowell,Zev Kronenberg,Aaron M. Wenger,Michael Eberle

BIOINFORMATICS（2024）

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Sawfish: Improving long-read structural variant discovery and genotyping with local haplotype modeling

Christopher T Saunders,James M Holt, Daniel N Baker, Juniper A Lake,Jonathan R Belyeu,Zev Kronenberg,William J Rowell, Michael A Eberle

biorxiv（2024）

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Long-Read Sequencing Increases Diagnostic Yield for Pediatric Sensorineural Hearing Loss

Shelby E Redfield,Wanqing Shao, Tieqi Sun, Adrian Pastolero,William J Rowell,Courtney E French, Cillian Nolan,James Matthew Holt, Christopher T Saunders, Cairbre Fanslow, Eirini Maria Lampraki,Christine Lambert,Margaret Kenna, Michael Eberle,Shira Rockowitz,Aiden Eliot Shearer

crossref（2024）

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Loss of Function of FAM177A1, a Golgi Complex Localized Protein, Causes a Novel Neurodevelopmental Disorder

GENETICS IN MEDICINEno. 9 (2024)

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The Landscape of Reported VUS in Multi-Gene Panel and Genomic Testing: Time for a Change

Heidi L. Rehm,Joseph T. Alaimo,Swaroop Aradhya,Pinar Bayrak-Toydemir,Hunter Best,Rhonda Brandon,Jillian G. Buchan,Elizabeth C. Chao,Elaine Chen,Jacob Clifford,Ana S. A. Cohen,Laura K. Conlin,Soma Das, Kyle W. Davis,Daniela del Gaudio,Florencia Del Viso,Christina Divincenzo,Marcia Eisenberg,Lucia Guidugli,Monia B. Hammer,Steven M. Harrison,Kathryn E. Hatchell, Lindsay Havens Dyer,Lily U. Hoang,James M. Holt,Vaidehi Jobanputra,Izabela D. Karbassi,Hutton M. Kearney,Melissa A. Kelly, Jacob M. Kelly,Michelle L. Kluge,Timothy Komala, Paul Kruszka,Lynette Lau,Matthew S. Lebo,Christian R. Marshall,Dianalee Mcknight,Kirsty Mcwalter, Yan Meng,Narasimhan Nagan, Christian S. Neckelmann,Nir Neerman,Zhiyv Niu,Vitoria K. Paolillo, Sarah A. Paolucci,Denise Perry,Tina Pesaran,Kelly Radtke,Kristen J. Rasmussen,Kyle Retterer,Carol J. Saunders,Elizabeth Spiteri,Christine Stanley,Anna Szuto,Ryan J. Taft,Isabelle Thiffault,Brittany C. Thomas,Amanda Thomas-Wilson,Erin Thorpe, Timothy J. Tidwell,Meghan C. Towne,Hana Zouk

Genetics in medicine official journal of the American College of Medical Geneticsno. 12 (2023): 100947-100947

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Ep403: Finding Merit in Impurity: Designing a Cost-Effective Workflow for Saliva Genome Sequencing

Nadiya Sosonkina,Melissa Kelly,James Holt,David Bick,Ghunwa Nakouzi

Genetics in medicineno. 3 (2022): S253-S254

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