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1.
DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data.
Nucleic Acids Res
; 50(17): e97, 2022 09 23.
Article
in English
| MEDLINE | ID: mdl-35713566
2.
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield.
Genet Med
; 23(8): 1569-1573, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33846582
3.
Investigation of different ML approaches in classification of emotions induced by acute stress.
Heliyon
; 10(1): e23611, 2024 Jan 15.
Article
in English
| MEDLINE | ID: mdl-38173518
4.
Comprehensive de novo mutation discovery with HiFi long-read sequencing.
Genome Med
; 15(1): 34, 2023 05 08.
Article
in English
| MEDLINE | ID: mdl-37158973
5.
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.
Eur J Hum Genet
; 31(1): 81-88, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36114283
6.
Long-read trio sequencing of individuals with unsolved intellectual disability.
Eur J Hum Genet
; 29(4): 637-648, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33257779
7.
Correction: Long-read trio sequencing of individuals with unsolved intellectual disability.
Eur J Hum Genet
; 29(4): 720, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-33772160
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