autozygosity.org autozygosity.org

autozygosity.org

autozygosity.org

Sir Jules Thorn International Resource for Autozygosity Mapping. Welcome to the Centre for Autozygosity Mapping. Is a UK and International resource for all those interested in the identification of recessive disease genes through autozygosity mapping in consanguineous families. We receive major funding through the 2009 Sir Jules Thorn Award for Biomedical Research. Entitled An international resource for the autozygosity mapping and identification of recessive disease genes in consanguineous families.

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Sir Jules Thorn International Resource for Autozygosity Mapping. Welcome to the Centre for Autozygosity Mapping. Is a UK and International resource for all those interested in the identification of recessive disease genes through autozygosity mapping in consanguineous families. We receive major funding through the 2009 Sir Jules Thorn Award for Biomedical Research. Entitled An international resource for the autozygosity mapping and identification of recessive disease genes in consanguineous families.
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autozygosity.org | autozygosity.org Reviews

https://autozygosity.org

Sir Jules Thorn International Resource for Autozygosity Mapping. Welcome to the Centre for Autozygosity Mapping. Is a UK and International resource for all those interested in the identification of recessive disease genes through autozygosity mapping in consanguineous families. We receive major funding through the 2009 Sir Jules Thorn Award for Biomedical Research. Entitled An international resource for the autozygosity mapping and identification of recessive disease genes in consanguineous families.

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autozygosity.org autozygosity.org
1

autozygosity.org: About us

http://www.autozygosity.org/about

Sir Jules Thorn International Resource for Autozygosity Mapping. What is autozygosity mapping? Autosomal recessive inherited disorders are major causes of developmental and metabolic abnormalities and a wide spectrum of other medical problems, particularly during childhood. An affected individual carries a deleterious mutation in both copies of the responsible gene. In order to identify disease-causing genes, therefore, homozygous chromosomal segments can be searched for in inbred affected individuals&#4...

2

autozygosity.org: Diagnostic testing

http://www.autozygosity.org/diagnostic

Sir Jules Thorn International Resource for Autozygosity Mapping. The tests listed below are available through the Yorkshire Regional DNA. Laboratory as part of our rare recessive disease service provision. For contact details, sample requirements and referral card, please visit the DNA. For further information, please contact us on 0113 206 5205. Test or service provided. Sequence analysis of exons 10 and 16. ( 70% of reported disease-causing variants occur in exons 10 and 16.). Sequencing for missense m...

3

autozygosity.org: Projects

http://www.autozygosity.org/projects

Sir Jules Thorn International Resource for Autozygosity Mapping. Mdash;the home of the Sir Jules Thorn International Resource for Autozygosity Mapping.

4

autozygosity.org: Blog

http://www.autozygosity.org/blog

Sir Jules Thorn International Resource for Autozygosity Mapping. Public and Patient Involvement Event (13th July 2011). Report on Public and Patient Involvement Event published in CLIMB. Article on Sir Jules Thorn Research project in Genetic Alliance UK, spring 2011 newsletter. pg 8. Genetic Alliance UK news letter. A resource for young people, adults and families affected by recessive inherited genetic conditions. Please visit Ciliopathy Alliance. For more information on ciliopathies and support groups.

5

autozygosity.org: People

http://www.autozygosity.org/people

Sir Jules Thorn International Resource for Autozygosity Mapping. Mdash;the home of the Sir Jules Thorn International Resource for Autozygosity Mapping.

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autozygosity.net autozygosity.net

autozygosity.org: Clinical need

http://www.autozygosity.net/demography

Sir Jules Thorn International Resource for Autozygosity Mapping. Patient participation is crucial to our work, which is governed by patient need. Some of the important demographic factors driving our research are listed below. High rates of consanguineous marriage in Bradford and West Yorkshire. Bradford has a population of 470,000, with 6,000 live births in 2006 (1). Although only 18% of the Bradford population is of south Asian origin, 50% of births are to south Asian families ( cf. Concluded that AR d...

autozygosity.net autozygosity.net

autozygosity.org: Diagnostic testing

http://www.autozygosity.net/diagnostic

Sir Jules Thorn International Resource for Autozygosity Mapping. The tests listed below are available through the Yorkshire Regional DNA. Laboratory as part of our rare recessive disease service provision. For contact details, sample requirements and referral card, please visit the DNA. For further information, please contact us on 0113 206 5205. Test or service provided. Sequence analysis of exons 10 and 16. ( 70% of reported disease-causing variants occur in exons 10 and 16.). Sequencing for missense m...

autozygosity.com autozygosity.com

autozygosity.org: Diagnostic testing

http://www.autozygosity.com/diagnostic

Sir Jules Thorn International Resource for Autozygosity Mapping. The tests listed below are available through the Yorkshire Regional DNA. Laboratory as part of our rare recessive disease service provision. For contact details, sample requirements and referral card, please visit the DNA. For further information, please contact us on 0113 206 5205. Test or service provided. Sequence analysis of exons 10 and 16. ( 70% of reported disease-causing variants occur in exons 10 and 16.). Sequencing for missense m...

autozygosity.com autozygosity.com

autozygosity.org: Clinical need

http://www.autozygosity.com/demography

Sir Jules Thorn International Resource for Autozygosity Mapping. Patient participation is crucial to our work, which is governed by patient need. Some of the important demographic factors driving our research are listed below. High rates of consanguineous marriage in Bradford and West Yorkshire. Bradford has a population of 470,000, with 6,000 live births in 2006 (1). Although only 18% of the Bradford population is of south Asian origin, 50% of births are to south Asian families ( cf. Concluded that AR d...

jiaengeneticslab.org jiaengeneticslab.org

家恩遗传实验室:遗传学链接

http://www.jiaengeneticslab.org/html/footer/more_links.php

Biology And Genetics Of New Autosomal Str Loci Useful For Forensic. DNA-Fingerprint DNA analysis services. Nation Human Genome Research Institute. GenEthx: Genetics and Ethics Database. HGNC database of human gene names. Phegeni Phenotype-Genotype Integrator - National Center for Biotechnology Information. The Human Protein Atlas. Verification of Certification ABMGG.

dna.leeds.ac.uk dna.leeds.ac.uk

Genetics utilities

http://dna.leeds.ac.uk/utilities

Calculates coefficients of inbreeding from pedigrees (including extraction of pedigree data from Cyrillic files). Decode2Affy, Illumina2Affy and PLink2Affy. Converts deCode, Illumina and PLink genotype data files to an Affymetrix-style format for use by AutoSNPa. Candidate gene prioritisation based on gene expression profiles. Calculates the quality of the sequence in an electropherogram file. Centre for Autozygosity Mapping. Software for genetic mapping using SNP arrays.

dna.leeds.ac.uk dna.leeds.ac.uk

Sequence analysis programs

http://dna.leeds.ac.uk/sequencing

Here are links to a number of Windows software packages for sequencing or related applications requiring analysis of capillary electropherograms. They have been written by Ian Carr. Is designed to speed up the characterisation of mammalian CpG islands by aligning DNA sequences from bisulphite-modified DNA to the genomic sequence of the CpG island. While simple in principle, this is a tedious error-prone task when done manually. CpGviewer web page. Is an applications designed to analyse the melt curve dat...

dna.leeds.ac.uk dna.leeds.ac.uk

Genetic mapping programs

http://dna.leeds.ac.uk/autozygosity

Here are links to a number of Windows programs for genetic mapping using autozygosity or other approaches, that have been written by Ian Carr. Finds the genotyping error rate and 'Nocall' genotype rate for Affymetrix microarray SNP chip genotype data. Affymetrix Error Rate web page. Is part of the Agile suite. Or a tab delimited text file formatted as described in the user guide webpage. AgileVariantMapper web page. While it doesn't duplicate the functions of Phaser. Displays autozygous regions from mult...

dna.leeds.ac.uk dna.leeds.ac.uk

Agile analysis of clonal sequence data

http://dna.leeds.ac.uk/agile

Desktop programs for analyzing massively parallel sequence data. Suite of programs allows the rapid analysis of clonal sequencing data, aligned to the human genome, with a view to identifying disease-causing sequence variants. It comprises several component programs, each with its own user guide and download page, as described below:. Variant that causes congenital cataract, corneal opacity, and glaucoma ( citation. Fastq and Fasta file manipulation and read quality filtering. Displays autozygous regions...

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Sir Jules Thorn International Resource for Autozygosity Mapping. Welcome to the Centre for Autozygosity Mapping. Is a UK and International resource for all those interested in the identification of recessive disease genes through autozygosity mapping in consanguineous families. We receive major funding through the 2009 Sir Jules Thorn Award for Biomedical Research. Entitled An international resource for the autozygosity mapping and identification of recessive disease genes in consanguineous families.

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autozygosity.org

Sir Jules Thorn International Resource for Autozygosity Mapping. Welcome to the Centre for Autozygosity Mapping. Is a UK and International resource for all those interested in the identification of recessive disease genes through autozygosity mapping in consanguineous families. We receive major funding through the 2009 Sir Jules Thorn Award for Biomedical Research. Entitled An international resource for the autozygosity mapping and identification of recessive disease genes in consanguineous families.

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Sir Jules Thorn International Resource for Autozygosity Mapping. Welcome to the Centre for Autozygosity Mapping. Is a UK and International resource for all those interested in the identification of recessive disease genes through autozygosity mapping in consanguineous families. We receive major funding through the 2009 Sir Jules Thorn Award for Biomedical Research. Entitled An international resource for the autozygosity mapping and identification of recessive disease genes in consanguineous families.

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