HomozgosityMapper pedigree Login

Genome-wide homozygosity in Carpenter Syndrome - Autozygositsy_4samples

139687 sites Max homozygosity score: 2257

Click on a chromosome to zoom in.

Broad – use this when you expect some genetic heterogeneity

scorechrfrom (bp)to (bp)length (bp)build 37
22576519697606288703110917272RegionGenotypes

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

scorechrfrom (bp)to (bp)length (bp)build 37
22576519697606288703110917272RegionGenotypes

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.
/
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.
/
Call GeneDistiller build 37
/
Create a BED file build 37
/
Homozyosity scores
Retrieve

Analysis settings

project_nameCarpenter Syndrome (Change name)
analysis_nameAutozygositsy_4samples (Change name)
analysis_descriptionSearch for autozygous regions
max_block_length600
max_score2257
owner_logintutorial
vcf_build37
lower_limit0
date2024-10-09 00:00:00
casesSample1,Sample2
controlsSample3,Sample4