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Dolzhenko, Egor
120  results:
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1

Sequence composition changes in short tandem repeats: heter..:

Rajan-Babu, Indhu-Shree ; Dolzhenko, Egor ; Eberle, Michael A..
Nature Reviews Genetics.  25 (2024)  7 - p. 476-499 , 2024
Link: https://doi.org/10.1038/..
 
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2

RExPRT: a machine learning tool to predict pathogenicity of..:

Fazal, Sarah ; Danzi, Matt C. ; Xu, Isaac...
Genome Biology.  25 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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3

O36: Long-read genome sequencing in unsolved rare genetic d..:

Del Gobbo, Giulia ; Couse, Madeline ; Lambert, Christine...
Genetics in Medicine Open.  2 (2024)  - p. 101474 , 2024
Link: https://doi.org/10.1016/..
 
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4

Analysis and benchmarking of small and large genomic varian..:

English, Adam C. ; Dolzhenko, Egor ; Ziaei Jam, Helyaneh...
Nature Biotechnology.  , 2024
Link: https://doi.org/10.1038/..
 
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5

P819: Genome-wide resolution of highly homologous genes usi..:

Chen, Xiao ; Dolzhenko, Egor ; Farrow, Emily...
Genetics in Medicine Open.  2 (2024)  - p. 101730 , 2024
Link: https://doi.org/10.1016/..
 
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6

P293: Long read sequencing analysis of 120 samples with kno..:

Devaney, Joseph ; Noya, Jessica ; Berlyoung, April...
Genetics in Medicine Open.  2 (2024)  - p. 101189 , 2024
Link: https://doi.org/10.1016/..
 
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7

P223: Multiplex detection and quantification of neurologica..:

Fuligni, Fabio ; Thaenert, Robert ; Hennigan, Aidan...
Genetics in Medicine Open.  2 (2024)  - p. 101120 , 2024
Link: https://doi.org/10.1016/..
 
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8

A common flanking variant is associated with enhanced stabi..:

Pellerin, David ; Del Gobbo, Giulia F. ; Couse, Madeline...
Nature Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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9

An intronic GAA repeat expansion in FGF14 causes the autoso..:

Rafehi, Haloom ; Read, Justin ; Szmulewicz, David J....
The American Journal of Human Genetics.  110 (2023)  1 - p. 105-119 , 2023
Link: https://doi.org/10.1016/..
 
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10

A deep population reference panel of tandem repeat variatio:

Ziaei Jam, Helyaneh ; Li, Yang ; DeVito, Ross...
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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11

An intronic GAA repeat expansion in FGF14 causes the autoso..:

Rafehi, Haloom ; Read, Justin ; Szmulewicz, David J....
The American Journal of Human Genetics.  110 (2023)  6 - p. 1018 , 2023
Link: https://doi.org/10.1016/..
 
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12

P478: Simultaneous analysis of 50+ different repeat expansi..:

Han, Tina ; Corbitt, Holly ; Dolzhenko, Egor...
Genetics in Medicine Open.  1 (2023)  1 - p. 100525 , 2023
Link: https://doi.org/10.1016/..
 
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13

STRipy: A graphical application for enhanced genotyping of ..:

Halman, Andreas ; Dolzhenko, Egor ; Oshlack, Alicia
Human Mutation.  43 (2022)  7 - p. 859-868 , 2022
Link: https://doi.org/10.1002/..
 
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14

Recurrent repeat expansions in human cancer genomes:

Erwin, Graham S. ; Gürsoy, Gamze ; Al-Abri, Rashid...
Nature.  613 (2022)  7942 - p. 96-102 , 2022
Link: https://doi.org/10.1038/..
 
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15

Whole genome sequencing for the diagnosis of neurological r..:

Ibañez, Kristina ; Polke, James ; Hagelstrom, R Tanner...
The Lancet Neurology.  21 (2022)  3 - p. 234-245 , 2022
Link: https://doi.org/10.1016/..
 
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