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HUMA specifications


Unique identifier OMICS_22261
Alternative name Human Mutation Analysis
Restrictions to use None
Database management system MySQL
Community driven No
Data access File download, Browse
User data submission Not allowed
Maintained Yes


  • Primates
    • Homo sapiens


  • person_outline Ozlem Tastan Bishop

Publication for Human Mutation Analysis

HUMA citations


Genome wide SNP data unveils the globalization of domesticated pigs

PMCID: 5609043
PMID: 28934946
DOI: 10.1186/s12711-017-0345-y

[…] the original nucleotide and haplotype diversity in Europe. These results could help to make decisions on the conservation and management of pig populations. For example, Mangalica pigs from Hungary (HUMA) and Mora Romagnola pigs from Italy (ITMR) present the most extensive ROH in their genomes and the highest European ancestry, which indicate that these two breeds have undergone intensive inbreed […]


Phylogeography and Population Genetic Structure of Amur Grayling Thymallus grubii in the Amur Basin

Asian-Australas J Anim Sci
PMCID: 4092984
PMID: 25049647
DOI: 10.5713/ajas.2011.11500

[…] different haplotypes were identified in the 107 samples analyzed ( and ). The number of haplotypes ranged from 1 to 11 for each river. The populations with the greatest number of haplotypes were the Huma River population (11). The haplotype frequency distribution was strongly skewed, with the vast majority of haplotypes found only once (42 out of 45) and restricted to a single population. H44 and […]


Tissue specific Temporal Exome Capture Revealed Muscle specific Genes and SNPs in Indian Buffalo (Bubalus bubalis)

PMCID: 5054198
PMID: 22768984
DOI: 10.1016/j.gpb.2012.05.005

[…] ome (Chr) 11 followed by Chr 19, 21, 29, 30 and 6. Our analysis showed 34 candidate SNPs (17.5%) in the CRB2 gene alone. No reports are available for candidate SNPs in the buffalo CRB2 gene, however, human mutation analysis of the CRB2 gene revealed 11 sequence variants leading to an amino acid substitution causing autosomal recessive disease . CRB2 was followed by PPFIA1 with 10 candidate SNPs. T […]


Functional analysis of novel SNPs and mutations in human and mouse genomes

BMC Bioinformatics
PMCID: 2638150
PMID: 19091009
DOI: 10.1186/1471-2105-9-S12-S10

[…] ey can only process known SNPs rather than newly found ones. In the analysis of novel variations, the Genomic Mutation Consequence Calculator (GMCC) [] does offer some help to researchers by allowing human mutation analysis to the synonymous/non-synonymous level. However, to perform more in-depth impact analysis in human and mouse genomes, researchers still need to use a suite of separate online s […]


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HUMA institution(s)
Research Unit in Bioinformatics (RUBi), Department of Biochemistry and Microbiology, Rhodes University, Grahamstown, South Africa
HUMA funding source(s)
Supported by National Institutes of Health Common Fund [grant number U41HG006941].

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