statistiche ricercatore

Nome	#
An automatic implementation of ACMG/ClinGen guidelines for constitutional Copy Number Variants annotation and interpretation	145
DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations	84
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity	43
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene	22
A machine learning approach for the detection of incidental findings in genetic testing	13
A machine learning approach for the detection of incidental findings in genetic testing	9
eVai's Suggested Diagnosis feature: a new AI-based method to increase diagnostic yield in Rare Disease Patients	7
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases	6
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project	4
Totale	333

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2020/2021	14	0	0	0	0	0	1	0	3	2	6	0	2
2021/2022	67	4	7	3	6	3	1	0	7	10	3	10	13
2022/2023	129	9	7	5	7	9	18	8	10	43	6	5	2
2023/2024	119	12	20	3	21	3	7	10	16	0	4	2	21
2024/2025	4	4	0	0	0	0	0	0	0	0	0	0	0
Totale													333