PreprintAll rights reservedmedRxiv7 Nov 2026

A Framework for Variant Filtering to Improve Diagnostic Outcomes in Genome Sequencing

R. Birnbaum
K. Lee
Y. Mazor
Y. Unger
S. Yanovsky-Dagan
I. Grundwag
M. Chalk
N. Shaul-Lotan
L. Greenbaum
O. Freireich
T. Klopstock
T. Dror

10 more authors

M. Sebbagh
R. Beeri
O. Murik
D. Raved
R. Rock
B. Pode-Shakked
H. Shani
S. Josefsberg
T. Harel
H. Mor¹

¹Department of Genetics, Hadassah Medical Center, Jerusalem, Israel. Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel. Geneyx Genomics, Is

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BibTeX

@misc{birnbaum2026framework,
  title = {{A Framework for Variant Filtering to Improve Diagnostic Outcomes in Genome Sequencing}},
  author = {R. Birnbaum and K. Lee and Y. Mazor and Y. Unger and S. Yanovsky-Dagan and I. Grundwag and M. Chalk and N. Shaul-Lotan and L. Greenbaum and O. Freireich and T. Klopstock and T. Dror and M. Sebbagh and R. Beeri and O. Murik and D. Raved and R. Rock and B. Pode-Shakked and H. Shani and S. Josefsberg and T. Harel and H. Mor},
  howpublished = {medRxiv},
  year = {2026},
  month = nov,
  doi = {10.64898/2026.11.07.26367371},
  url = {https://www.medrxiv.org/content/10.64898/2026.11.07.26367371v1},
}

RIS

TY  - UNPB
TI  - A Framework for Variant Filtering to Improve Diagnostic Outcomes in Genome Sequencing
AU  - R. Birnbaum
AU  - K. Lee
AU  - Y. Mazor
AU  - Y. Unger
AU  - S. Yanovsky-Dagan
AU  - I. Grundwag
AU  - M. Chalk
AU  - N. Shaul-Lotan
AU  - L. Greenbaum
AU  - O. Freireich
AU  - T. Klopstock
AU  - T. Dror
AU  - M. Sebbagh
AU  - R. Beeri
AU  - O. Murik
AU  - D. Raved
AU  - R. Rock
AU  - B. Pode-Shakked
AU  - H. Shani
AU  - S. Josefsberg
AU  - T. Harel
AU  - H. Mor
PY  - 2026
DA  - 2026/11/07
PB  - medRxiv
DO  - 10.64898/2026.11.07.26367371
UR  - https://www.medrxiv.org/content/10.64898/2026.11.07.26367371v1
ER  -

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