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Mendel,MD specifications

Information


Unique identifier OMICS_18803
Name Mendel,MD
Interface Web user interface
Restrictions to use Academic or non-commercial use
Computer skills Basic
Stability Stable
Maintained Yes

Documentation


Maintainer


  • person_outline Sergio Pena

Information


Unique identifier OMICS_18803
Name Mendel,MD
Software type Package/Module
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux
Programming languages Javascript, PHP, Python, CSS, HTML
License BSD 3-clause “New” or “Revised” License
Computer skills Advanced
Version 1.3
Stability Stable
Maintained Yes

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Documentation


Maintainer


  • person_outline Sergio Pena

Publication for Mendel,MD

Mendel,MD citations

 (3)
library_books

Familial STAG2 germline mutation defines a new human cohesinopathy

2017
PMCID: 5677968
PMID: 29263825
DOI: 10.1038/s41525-017-0009-4

[…] rrowed down against databases such as 1000 Genomes Phase 3, NHLBI Exome Sequencing Project (ESP6500), and Single Nucleotide Polymorphism database (dbSNP141) using a software developed in-house called Mendel,MD and the ENLIS Genome Research software (Enlis Genomics). We further used the online software Exome Walker (http://compbio.charite.de/ExomeWalker/ExomeWalker?id=11), which prioritizes variant […]

call_split

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

2016
Genet Mol Biol
PMCID: 5004838
PMID: 27561113
DOI: 10.1590/1678-4685-GMB-2016-0049
call_split See protocol

[…] ion of the variants against databases such as 1000 Genomes (April 2012 release), (ESP6500) and Single Nucleotide Polymorphism database (dbSNP137) were done using a software developed in-house called Mendel,MD (). The prediction software (Sorting Intolerant From Tolerant) was used in order to estimate whether a given amino acid substitution affected protein function. SIFT prediction is based on t […]

library_books

Highlights from the 1st ISCB Latin American Student Council Symposium 2014

2015
BMC Bioinformatics
PMCID: 4423572
PMID: 25955751
DOI: 10.1186/1471-2105-16-S8-A1

[…] Delivering the first student presentation, Guimarães et al. [] presented Mendel,MD an efficient, secure and reliable software to explore variants from exome data of patients with Mendelian disorders. While the software is efficient and sophisticated from the computational […]


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Mendel,MD institution(s)
Laboratorio de Genomica Clinica, Faculdade de Medicina da UFMG, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil; Departamento de Bioquımica e Imunologia, Instituto de Ciências de Biologicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil; GENE–Nucleo de Genetica Medica, Belo Horizonte, Brazil
Mendel,MD funding source(s)
Supported by a research grant from the Fundacao de Amparo à Pesquisa do Estado de Minas Gerais (FAPEMIG), a graduate fellowship from Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES), and a graduate fellowship from Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPQ).

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