Softgenetics has announced that its Genemarker software now features a new haplotype analysis functionality for use in areas such as genetic-disorder research and pre-implantation studies.
The new functionality eliminates the errors of manual data transfer while automatically drawing family groups and assigning the first-order-approximation phase of the alleles while deducing the haplotype of the children from familial data.
Genemarker is a genotyping tool that may be used with commercially available clinical assays for both autosomal and X-linked traits for diagnoses of diseases such as cystic fibrosis and Duchenne muscular dystrophy.
Traditionally, researchers determine the genotype of each family member.
This may require using allele calls from two or more kits to obtain the complete allele call information for each person.
Researchers then draw a pedigree diagram and assign the phase of the alleles, based on the familial data of parents and children.
This manual process is time consuming and subject to error due to data transfer from genotyping software to pedigree analysis software.
Teresa Synder-Lieby, product manager, said: 'Genemarker's haplotype application includes several benefits that researchers or clinicians will find quite useful.
'The application follows Bennett et al nomenclature for the pedigrees, X-linked and autosomal pedigree formats based upon parent/children allele calls, has the ability to edit family and individual information, displays markers, allele calls and personal information in the pedigree, automatically makes first-order phase assignment and flags allele conflicts detecting potential uni-parental disomy.
'The software eliminates the need to manually transfer genotype information, as is the common practice of today,' she added.
The company offers 30-day trials and no-cost web-based training on its genetic analysis software packages.
