Search details
1.
Prioritizing genomic variants through neuro-symbolic, knowledge-enhanced learning.
Bioinformatics
; 40(5)2024 May 02.
Article
in English
| MEDLINE | ID: mdl-38696757
2.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Hum Genomics
; 18(1): 44, 2024 Apr 29.
Article
in English
| MEDLINE | ID: mdl-38685113
3.
Starvar: symptom-based tool for automatic ranking of variants using evidence from literature and genomes.
BMC Bioinformatics
; 24(1): 294, 2023 Jul 21.
Article
in English
| MEDLINE | ID: mdl-37479972
4.
DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning.
Bioinformatics
; 38(6): 1677-1684, 2022 03 04.
Article
in English
| MEDLINE | ID: mdl-34951628
5.
Predicting candidate genes from phenotypes, functions and anatomical site of expression.
Bioinformatics
; 37(6): 853-860, 2021 05 05.
Article
in English
| MEDLINE | ID: mdl-33051643
6.
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.
Clin Genet
; 98(6): 555-561, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32869858
7.
CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs).
Res Sq
; 2023 Aug 02.
Article
in English
| MEDLINE | ID: mdl-37577579
8.
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
medRxiv
; 2023 Aug 04.
Article
in English
| MEDLINE | ID: mdl-37577678
9.
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
BMC Med Genomics
; 13(1): 103, 2020 07 17.
Article
in English
| MEDLINE | ID: mdl-32680510
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