Medizinische Universität Graz - Research portal
Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Quinodoz, M; Peter, VG; Bedoni, N; Royer, Bertrand, B; Cisarova, K; Salmaninejad, A; Sepahi, N; Rodrigues, R; Piran, M; Mojarrad, M; Pasdar, A; Ghanbari, Asad, A; Sousa, AB; Coutinho, Santos, L; Superti-Furga, A; Rivolta, C.
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.
Nat Commun. 2021; 12(1): 518
Doi: 10.1038/s41467-020-20584-4
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
- Co-authors Med Uni Graz
- Vizar Cisarova Katarina
- Altmetrics:
- Dimensions Citations:
- Plum Analytics:
- Scite (citation analytics):
- Abstract:
- Homozygosity mapping is a powerful method for identifying mutations in patients with recessive conditions, especially in consanguineous families or isolated populations. Historically, it has been used in conjunction with genotypes from highly polymorphic markers, such as DNA microsatellites or common SNPs. Traditional software performs rather poorly with data from Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS), which are now extensively used in medical genetics. We develop AutoMap, a tool that is both web-based or downloadable, to allow performing homozygosity mapping directly on VCF (Variant Call Format) calls from WES or WGS projects. Following a training step on WES data from 26 consanguineous families and a validation procedure on a matched cohort, our method shows higher overall performances when compared with eight existing tools. Most importantly, when tested on real cases with negative molecular diagnosis from an internal set, AutoMap detects three gene-disease and multiple variant-disease associations that were previously unrecognized, projecting clear benefits for both molecular diagnosis and research activities in medical genetics.
- Find related publications in this database (using NLM MeSH Indexing)
- Chromosome Mapping - methods
- Computational Biology - methods
- Genetic Predisposition to Disease - genetics
- Genome, Human - genetics
- Genotype - administration & dosage
- High-Throughput Nucleotide Sequencing - methods
- Homozygote - administration & dosage
- Humans - administration & dosage
- Internet - administration & dosage
- Mutation - administration & dosage
- Polymorphism, Single Nucleotide - administration & dosage
- Reproducibility of Results - administration & dosage
- Software - administration & dosage
- Exome Sequencing - methods