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P647 Targeted resequencing project

In collaboration with Dr Robert Semple we have identified a family harbouring an autosomal dominant variant, which leads to severe insulin resistance (SIR), short stature and facial dysmorphism. This family is unique within the SIR cohort in having normal lipid profiles, preserved adiponectin and normal INSR expression and phosphorylation. DNA is available for 7 affected and 7 unaffected family members across 3 generations. All 14 samples have been genotyped using microsatellites and the Affymetrix 6.0 SNP chip. Linkage analysis identified an 18.8Mb haplotype on chromosome 19 as a possible location of the causative variant. However, Exome sequencing of 3 affected and 1 unaffected family members has not identified the causative variant suggesting the possibility of an intronic or intergenic variant in this region or elsewhere in the genome. We propose to conduct whole genome sequencing of 5 members of the pedigree at a depth of 20X. The chosen samples are two sets of parents plus one member of an unaffected branch of the pedigree who shares the risk haplotype on chromosome 19. Sequencing of the two sets of parents will be used along with the genome-wide SNP data to impute 4 affected children giving an effect sample size of 6 affected individuals.

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Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001000305 Whole Genome Sequencing

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00000149947 bam 6.6 GB
EGAF00000149948 bam 6.8 GB
EGAF00000149949 bam 9.4 GB
EGAF00000149950 bam 8.1 GB
EGAF00000149951 bam 7.1 GB
EGAF00000153161 bam 4.9 GB
EGAF00000153162 bam 5.0 GB
EGAF00000153163 bam 7.0 GB
EGAF00000153164 bam 6.0 GB
EGAF00000153165 bam 5.3 GB
EGAF00000153166 bam 4.8 GB
EGAF00000153167 bam 5.0 GB
EGAF00000153168 bam 7.0 GB
EGAF00000153169 bam 6.0 GB
EGAF00000153170 bam 5.2 GB
EGAF00000153171 bam 4.7 GB
EGAF00000153172 bam 4.7 GB
EGAF00000153173 bam 6.7 GB
EGAF00000153174 bam 5.7 GB
EGAF00000153175 bam 5.0 GB
EGAF00000155881 bam 5.2 GB
EGAF00000155882 bam 5.3 GB
EGAF00000155883 bam 7.7 GB
EGAF00000155884 bam 6.4 GB
EGAF00000155885 bam 5.5 GB
EGAF00000177822 bam 4.5 GB
EGAF00000177823 bam 4.6 GB
EGAF00000177824 bam 6.3 GB
EGAF00000177825 bam 5.5 GB
EGAF00000177826 bam 4.8 GB
EGAF00000177827 bam 4.6 GB
EGAF00000177828 bam 4.7 GB
EGAF00000177829 bam 6.5 GB
EGAF00000177830 bam 5.6 GB
EGAF00000177831 bam 5.0 GB
EGAF00000177832 bam 4.6 GB
EGAF00000177833 bam 4.7 GB
EGAF00000177834 bam 6.4 GB
EGAF00000177835 bam 5.6 GB
EGAF00000177836 bam 4.9 GB
EGAF00000224085 bam 17.6 GB
EGAF00000224086 bam 16.5 GB
EGAF00000230074 bam 15.9 GB
EGAF00000230075 bam 14.9 GB
44 Files (294.5 GB)