Pier Luigi Martelli
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Explore the profile of Pier Luigi Martelli including associated specialties, affiliations and a list of published articles.
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131
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Recent Articles
11.
Zhang J, Kinch L, Katsonis P, Lichtarge O, Jagota M, Song Y, et al.
Hum Genet
. 2024 Aug;
PMID: 39110250
This paper presents an evaluation of predictions submitted for the "HMBS" challenge, a component of the sixth round of the Critical Assessment of Genome Interpretation held in 2021. The challenge...
12.
Mazwi K, Lekota K, Glover B, Kolo F, Hassim A, Rossouw J, et al.
J Microbiol
. 2024 Jul;
62(9):759-773.
PMID: 39037482
Brucellosis is an economically important zoonotic disease affecting humans, livestock, and wildlife health globally and especially in Africa. Brucella abortus and B. melitensis have been isolated from human, livestock (cattle...
13.
Chen Y, Lee K, Woo J, Kim D, Keum C, Babbi G, et al.
Res Sq
. 2024 Jul;
PMID: 39011112
Critical evaluation of computational tools for predicting variant effects is important considering their increased use in disease diagnosis and driving molecular discoveries. In the sixth edition of the Critical Assessment...
14.
Rastogi R, Chung R, Li S, Li C, Lee K, Woo J, et al.
bioRxiv
. 2024 Jun;
PMID: 38895200
Regular, systematic, and independent assessment of computational tools used to predict the pathogenicity of missense variants is necessary to evaluate their clinical and research utility and suggest directions for future...
15.
Jain S, Trinidad M, Nguyen T, Jones K, Neto S, Ge F, et al.
bioRxiv
. 2024 May;
PMID: 38798479
Continued advances in variant effect prediction are necessary to demonstrate the ability of machine learning methods to accurately determine the clinical impact of variants of unknown significance (VUS). Towards this...
16.
Manfredi M, Savojardo C, Iardukhin G, Salomoni D, Costantini A, Martelli P, et al.
J Mol Biol
. 2024 May;
436(17):168593.
PMID: 38718922
We develop a novel database Alpha&ESMhFolds which allows the direct comparison of AlphaFold2 and ESMFold predicted models for 42,942 proteins of the Reference Human Proteome, and when available, their comparison...
17.
Stenton S, OLeary M, Lemire G, VanNoy G, DiTroia S, Ganesh V, et al.
Hum Genomics
. 2024 Apr;
18(1):44.
PMID: 38685113
Background: A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years and causal variants are identified in under...
18.
Manfredi M, Savojardo C, Martelli P, Casadio R
Bio Protoc
. 2024 Feb;
14(4):e4935.
PMID: 38405078
Coiled-coil domains (CCDs) are structural motifs observed in proteins in all organisms that perform several crucial functions. The computational identification of CCD segments over a protein sequence is of great...
19.
Bertolini E, Babbi G, Savojardo C, Martelli P, Casadio R
Nucleic Acids Res
. 2023 Oct;
52(D1):D494-D501.
PMID: 37791887
MultifacetedProtDB is a database of multifunctional human proteins deriving information from other databases, including UniProt, GeneCards, Human Protein Atlas (HPA), Human Phenotype Ontology (HPO) and MONDO. It collects under the...
20.
Stenton S, OLeary M, Lemire G, VanNoy G, DiTroia S, Ganesh V, et al.
medRxiv
. 2023 Aug;
PMID: 37577678
Background: A major obstacle faced by rare disease families is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years, and causal variants are identified in under 50%....