Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.

Cheng YH, Sedeño-Cortés AE, Ranchalis JE, Munson KM, Vollger MR, Balton E, Genetti CA, Undiagnosed Diseases Network, Genomics Research to Elucidate the Genetics of Rare Diseases consortium, University of Washington Center for Rare Diseases Research, Wilson JL, Wojcik MH, Beggs AH, Bamshad MJ, Wei CL, Dipple KM, Kumar RD, Fleming MD, Glass IA, Blue EE, Jarvik G, Chong JX, Witten DM, O'Donnell-Luria A, Stergachis AB

Open source

DOI: 10.1016/j.ajhg.2026.08.002
Published: 2026 Sep 3
Container: American journal of human genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2026.08.002,
  title = {Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.},
  author = {Cheng YH and Sedeño-Cortés AE and Ranchalis JE and Munson KM and Vollger MR and Balton E and Genetti CA and Undiagnosed Diseases Network and Genomics Research to Elucidate the Genetics of Rare Diseases consortium and University of Washington Center for Rare Diseases Research and Wilson JL and Wojcik MH and Beggs AH and Bamshad MJ and Wei CL and Dipple KM and Kumar RD and Fleming MD and Glass IA and Blue EE and Jarvik G and Chong JX and Witten DM and O'Donnell-Luria A and Stergachis AB},
  year = {2026},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2026.08.002},
  url = {https://doi.org/10.1016/j.ajhg.2026.08.002}
}

RIS

TY  - JOUR
TI  - Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.
AU  - Cheng YH
AU  - Sedeño-Cortés AE
AU  - Ranchalis JE
AU  - Munson KM
AU  - Vollger MR
AU  - Balton E
AU  - Genetti CA
AU  - Undiagnosed Diseases Network
AU  - Genomics Research to Elucidate the Genetics of Rare Diseases consortium
AU  - University of Washington Center for Rare Diseases Research
AU  - Wilson JL
AU  - Wojcik MH
AU  - Beggs AH
AU  - Bamshad MJ
AU  - Wei CL
AU  - Dipple KM
AU  - Kumar RD
AU  - Fleming MD
AU  - Glass IA
AU  - Blue EE
AU  - Jarvik G
AU  - Chong JX
AU  - Witten DM
AU  - O'Donnell-Luria A
AU  - Stergachis AB
PY  - 2026
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2026.08.002
UR  - https://doi.org/10.1016/j.ajhg.2026.08.002
ER  -

APA

YH, C., AE, S., JE, R., KM, M., MR, V., E, B., CA, G., Network, U. D., consortium, G. R. T. E. T. G. O. R. D., Research, U. O. W. C. F. R. D., JL, W., MH, W., AH, B., MJ, B., CL, W., KM, D., RD, K., MD, F., IA, G., EE, B., G, J., JX, C., DM, W., A, O., & AB, S. (2026). Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2026.08.002

Source records

pubmed · retrieved 2026-09-26T18:01:21.127Z