List of works - Maria Angela Diroma - Paulina

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List of works by Maria Angela Diroma

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MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing

scientific article

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

scientific article (publication date: March 2015)

Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data

scientific article published on May 6, 2014

A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest

scientific article

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease

scientific article published on 26 February 2016

Elucidating the editome: bioinformatics approaches for RNA editing detection

scientific article published on 11 October 2017

HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor

scientific article

A comprehensive collection of annotations to interpret sequence variation in human mitochondrial transfer RNAs.

scientific article

NumtS colonization in mammalian genomes

scientific article

A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study

scientific article published on 18 September 2018

New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples

scientific article published on 18 February 2021

Investigating Human Mitochondrial Genomes in Single Cells

scientific article published on 11 May 2020

MSeqDR: Making genomics accessible to the mitochondrial disease community

scholarly article by Marni J. Falk et al published September 2015 in Mitochondrion