We are a genetic testing laboratory working with a human exome for the first time. We need help analysing the data. We will provide the exome files for analysis. It would be great if you could take this data and help us find clinically relevant variations. The person is thought to be generally healthy.
The job includes:
1) Analyse Exome data (Bam files, fastaqc, bai, vcf available) for one humen exome. We need info such as clinically relevant mutations, carrier status etc.
2) The VCF gives us variatons that differ from the reference sequence only. We do however also need info which SNPs are wildtype. Give us a list of SNP rs numbers that were covered by the Exome (Not just the ones that differ from the reference data).
Please DO NOT bid if you dont know what a BAM file or reference genome is.
Many follow up projects are likely if things go well!
Hi,
I have a PhD + experience in human genetics.
I worked with sequencing data to find causative variants.
I will need the available data (BAM, VCF files, ...) + information about the Exome library that is use in the test if available.
And the data should be compressed with a password to be able to get it through internet based on the EU data protection rules.
I offer here to give you:
1- List of all SNPs in exons with their genotypes.
2- Annotate the VCF file with annotations that important for clinical purpose with the frequency of each variant in the population.
3- After the annotation step, I offer a filtering step if you want to get the list of filtered variants to avoid the false positives and to get the most important variants.
€174 EUR en 4 días
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5 freelancers están ofertando un promedio de €139 EUR por este trabajo
Have excellent knowledge in bioinformatics and genomic thus feel suitable to do the task
Relevant Skills and Experience
Product development, research, data analysis, bioinformatics, biomedical sciences
I have a background in genome sequence algorithms and genome analysis (University of British Columbia), many computer languages and this job is a perfect opportunity to apply my knowledge
Hello.
This is Arshi.
I would like to apply for Interpretation of Genomic ( Exome) Data to find the clinically relevant variations in a healthy individual.
I have done my Masters in medical genetics.
I am well versed with bioinformatics.
I would request you to kindly provide me a chance for the same.
Looking forward to work together.
Regards
Arshi