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1 . Academic Journal
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
저자
by
Sarah L. Stenton
;
Melanie C. O’Leary
;
Gabrielle Lemire
;
Grace E. VanNoy
;
Stephanie DiTroia
, et al.
소스
Human Genomics, Vol 18, Iss 1, Pp 1-25 (2024)
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7 . Academic Journal
CoCoNat: A Deep Learning–Based Tool for the Prediction of Coiled-coil Domains in Protein Sequences
저자
by
Matteo Manfredi
;
Castrense Savojardo
;
Pier Luigi Martelli
;
Rita Casadio
.
소스
Bio-Protocol, Vol 14, Iss 4 (2024)
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6 . Academic Journal
Resources and tools for rare disease variant interpretation
저자
by
Luana Licata
;
Allegra Via
;
Paola Turina
;
Giulia Babbi
;
Silvia Benevenuta
, et al.
소스
Frontiers in Molecular Biosciences, Vol 10 (2023)
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7 . Academic Journal
Mapping human disease-associated enzymes into Reactome allows characterization of disease groups and their interactions
저자
by
Castrense Savojardo
;
Davide Baldazzi
;
Giulia Babbi
;
Pier Luigi Martelli
;
Rita Casadio
.
소스
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
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7 . Academic Journal
Ancient DNA SNP-panel data suggests stability in bluefin tuna genetic diversity despite centuries of fluctuating catches in the eastern Atlantic and Mediterranean
저자
by
Adam J. Andrews
;
Gregory N. Puncher
;
Darío Bernal-Casasola
;
Antonio Di Natale
;
Francesco Massari
, et al.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
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7 . Academic Journal
Pathogenic variation types in human genes relate to diseases through Pfam and InterPro mapping
저자
by
Giulia Babbi
;
Castrense Savojardo
;
Davide Baldazzi
;
Pier Luigi Martelli
;
Rita Casadio
.
소스
Frontiers in Molecular Biosciences, Vol 9 (2022)
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7 . Academic Journal
DeepREx-WS: A web server for characterising protein–solvent interaction starting from sequence
저자
by
Matteo Manfredi
;
Castrense Savojardo
;
Pier Luigi Martelli
;
Rita Casadio
.
소스
Computational and Structural Biotechnology Journal, Vol 19, Iss , Pp 5791-5799 (2021)
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6 . Academic Journal
Large-scale prediction and analysis of protein sub-mitochondrial localization with DeepMito
저자
by
Castrense Savojardo
;
Pier Luigi Martelli
;
Giacomo Tartari
;
Rita Casadio
.
소스
BMC Bioinformatics, Vol 21, Iss S8, Pp 1-13 (2020)
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6 . Academic Journal
The CAFA challenge reports improved protein function prediction and new functional annotations for hundreds of genes through experimental screens
저자
by
Naihui Zhou
;
Yuxiang Jiang
;
Timothy R. Bergquist
;
Alexandra J. Lee
;
Balint Z. Kacsoh
, et al.
소스
Genome Biology, Vol 20, Iss 1, Pp 1-23 (2019)
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7 . Academic Journal
Mapping OMIM Disease–Related Variations on Protein Domains Reveals an Association Among Variation Type, Pfam Models, and Disease Classes
저자
by
Castrense Savojardo
;
Giulia Babbi
;
Pier Luigi Martelli
;
Rita Casadio
.
소스
Frontiers in Molecular Biosciences, Vol 8 (2021)
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