HomozgosityMapper pedigree Login

Genome-wide homozygosity in Carpenter Syndrome - Autozygositsy

139685 sites Max homozygosity score: 633

Click on a chromosome to zoom in.

Broad – use this when you expect some genetic heterogeneity

scorechrfrom (bp)to (bp)length (bp)build 37
633656044578623909166346339RegionGenotypes

Narrow – use this when all patients are from the same family

scorechrfrom (bp)to (bp)length (bp)build 37
633656044578623909166346339RegionGenotypes

Options and Exports

Change threshold
Export homozygous regions in VCF format ?
Set the threshold above to a low value if you have a single patient with a low degree of consanguinity and want to cover all potentially disease-linked regions. This might take a minute - please be patient.
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Call MutationDistiller build 37 ?
Set the threshold above to a low value if you have a single patient with a low degree of consanguinity and want to cover all potentially disease-linked regions. By default, variants found 10 or more times in gnomAD or ExAc, or 4 or more times in the 1000Genomes Project in homozygous state are excluded. Click here to learn more. This might take a minute - please be patient. Please find help for the identification of pathogenic DNA variants with MutationDistiller in MutationDistiller's tutorial.
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Call GeneDistiller build 37
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Create a BED file build 37
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Homozyosity scores
Retrieve

Analysis settings

project_nameCarpenter Syndrome (Change name)
analysis_nameAutozygositsy (Change name)
analysis_descriptionSearch for autozygous regions
max_block_length6
max_score633
owner_logintutorial
vcf_build37
lower_limit0
date2022-11-22 00:00:00
casesSample1,Sample2
controlsSample3,Sample4