Brandl B, Steiger M, Kubelt C, Rohrandt C, Zhu Z, Evers M
Nat Med. 2025; .
PMID: 40021833
DOI: 10.1038/s41591-024-03435-3.
Su X, Lin Q, Liu B, Zhou C, Lu L, Lin Z
Cell Insight. 2025; 4(2):100229.
PMID: 39995512
PMC: 11849079.
DOI: 10.1016/j.cellin.2025.100229.
Hunter B, Cromwell T, Shim H
Comput Struct Biotechnol J. 2025; 27:440-450.
PMID: 39906158
PMC: 11791290.
DOI: 10.1016/j.csbj.2025.01.002.
Negi S, Stenton S, Berger S, Canigiula P, McNulty B, Violich I
Am J Hum Genet. 2025; 112(2):428-449.
PMID: 39862869
PMC: 11866955.
DOI: 10.1016/j.ajhg.2025.01.002.
Emiliani F, Ismail A, Hughes E, Tsongalis G, Zanazzi G, Lin C
Genome Med. 2025; 17(1):6.
PMID: 39833913
PMC: 11744943.
DOI: 10.1186/s13073-025-01427-7.
Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes.
Paschal C, Zalusky M, Beck A, Gillentine M, Narayanan J, Damaraju N
J Mol Diagn. 2025; 27(3):166-176.
PMID: 39756651
PMC: 11881775.
DOI: 10.1016/j.jmoldx.2024.12.003.
Health equity innovation in precision medicine: data stewardship and agency to expand representation in clinicogenomics.
Silva P, Rahimzadeh V, Powell R, Husain J, Grossman S, Hansen A
Health Res Policy Syst. 2024; 22(1):170.
PMID: 39695714
PMC: 11657299.
DOI: 10.1186/s12961-024-01258-9.
GFPrint™: A machine learning tool for transforming genetic data into clinical insights.
Sanz-Martin G, Migliore D, Gomez Del Campo P, Del Castillo-Izquierdo J, Dominguez J
PLoS One. 2024; 19(11):e0311370.
PMID: 39602407
PMC: 11602062.
DOI: 10.1371/journal.pone.0311370.
Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand.
Nyaga D, Tsai P, Gebbie C, Phua H, Yap P, Le Quesne Stabej P
NPJ Genom Med. 2024; 9(1):57.
PMID: 39516456
PMC: 11549486.
DOI: 10.1038/s41525-024-00445-5.
3-hour genome sequencing and targeted analysis to rapidly assess genetic risk.
Zalusky M, Gustafson J, Bohaczuk S, Mallory B, Reed P, Wenger T
Genet Med Open. 2024; 2.
PMID: 39421454
PMC: 11484281.
DOI: 10.1016/j.gimo.2024.101833.
Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes.
ONeill K, Pleasance E, Fan J, Akbari V, Chang G, Dixon K
Cell Genom. 2024; 4(11):100674.
PMID: 39406235
PMC: 11605692.
DOI: 10.1016/j.xgen.2024.100674.
Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics.
Nakamichi K, Huey J, Sangermano R, Place E, Bujakowska K, Marra M
JCI Insight. 2024; 9(20).
PMID: 39264853
PMC: 11530123.
DOI: 10.1172/jci.insight.183902.
Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey.
Guner Yilmaz B, Akgun-Dogan O, Ozdemir O, Yuksel B, Ng O, Bilguvar K
Front Pediatr. 2024; 12:1412880.
PMID: 39026936
PMC: 11254770.
DOI: 10.3389/fped.2024.1412880.
Local read haplotagging enables accurate long-read small variant calling.
Kolesnikov A, Cook D, Nattestad M, Brambrink L, McNulty B, Gorzynski J
Nat Commun. 2024; 15(1):5907.
PMID: 39003259
PMC: 11246426.
DOI: 10.1038/s41467-024-50079-5.
Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease.
Sanchez S, Gu Y, Wang Y, Golla A, Martin A, Shomali W
Nat Commun. 2024; 15(1):5148.
PMID: 38890274
PMC: 11189511.
DOI: 10.1038/s41467-024-49007-4.
Diagnostic genomic sequencing in critically ill children.
Auber B, Schmidt G, Du C, von Hardenberg S
Med Genet. 2024; 35(2):105-112.
PMID: 38840860
PMC: 10842578.
DOI: 10.1515/medgen-2023-2015.
Rapid Whole-Genome Sequencing and Clinical Management in the PICU: A Multicenter Cohort, 2016-2023.
Rodriguez K, Vaught J, Salz L, Foley J, Boulil Z, Van Dongen-Trimmer H
Pediatr Crit Care Med. 2024; 25(8):699-709.
PMID: 38668387
PMC: 11300160.
DOI: 10.1097/PCC.0000000000003522.
A Nanopore Sequencing-based Pharmacogenomic Panel to Personalize Tuberculosis Drug Dosing.
Verma R, Da Silva K, Rockwood N, Wasmann R, Yende N, Song T
Am J Respir Crit Care Med. 2024; 209(12):1486-1496.
PMID: 38647526
PMC: 11208962.
DOI: 10.1164/rccm.202309-1583OC.
Current situation and prospect for the diagnosis and treatment of pediatric critical rare diseases in China.
Liu Y, Qian S
Pediatr Investig. 2024; 8(1):66-71.
PMID: 38516143
PMC: 10951483.
DOI: 10.1002/ped4.12419.
Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review.
Kingsmore S, Nofsinger R, Ellsworth K
NPJ Genom Med. 2024; 9(1):17.
PMID: 38413639
PMC: 10899612.
DOI: 10.1038/s41525-024-00404-0.