Lista de obras - Alfredo Iacoangeli - Dominio Público Uruguay

A Knowledge-Based Machine Learning Approach to Gene Prioritisation in Amyotrophic Lateral Sclerosis

artículo científico publicado en 2020

ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients.

artículo científico publicado en 2019

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

scientific article published on 19 May 2020

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

artículo científico publicado en 2018

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

artículo científico publicado en 2021

C9orf72 intermediate expansions of 24-30 repeats are associated with ALS

artículo científico publicado en 2019

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

artículo científico

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

artículo científico

Cross-reactive probes on Illumina DNA methylation arrays: a large study on ALS shows that a cautionary approach is warranted in interpreting epigenome-wide association studies

artículo científico publicado en 2020

DGLinker: flexible knowledge-graph prediction of disease–gene associations

artículo científico publicado en 2021

DNAscan: personal computer compatible NGS analysis, annotation and visualisation

scientific article published on 27 April 2019

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

scientific article published on 25 November 2019

Exploiting homology information in nontemplate based prediction of protein structures.

artículo científico publicado en 2015

Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

artículo científico publicado en 2021

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

artículo científico publicado en 2021

PepComposer: computational design of peptides binding to a given protein surface

artículo científico publicado en 2016

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

Reconsidering the causality of TIA1 mutations in ALS.

artículo científico publicado en 2017

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

artículo científico publicado en 2022

Telomere length is greater in ALS than in controls: a whole genome sequencing study

artículo científico publicado en 2019

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

UK case control study of smoking and risk of amyotrophic lateral sclerosis

artículo científico publicado en 2020

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

artículo científico publicado en 2018

Lista de obras de Alfredo Iacoangeli

A Knowledge-Based Machine Learning Approach to Gene Prioritisation in Amyotrophic Lateral Sclerosis

ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients.

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

C9orf72 intermediate expansions of 24-30 repeats are associated with ALS

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Cross-reactive probes on Illumina DNA methylation arrays: a large study on ALS shows that a cautionary approach is warranted in interpreting epigenome-wide association studies

DGLinker: flexible knowledge-graph prediction of disease–gene associations

DNAscan: personal computer compatible NGS analysis, annotation and visualisation

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

Exploiting homology information in nontemplate based prediction of protein structures.

Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

PepComposer: computational design of peptides binding to a given protein surface

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

Reconsidering the causality of TIA1 mutations in ALS.

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

Telomere length is greater in ALS than in controls: a whole genome sequencing study

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

UK case control study of smoking and risk of amyotrophic lateral sclerosis

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias