Study
PRDM9 loss of function follow up from Born in Bradford Autozygosity sequencing
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001001301 | Whole Genome Sequencing |
Study Description
In the autozygosity exome sequencing of Born-in-Bradford samples of Pakistani origin thereis a mother who is homozygous for an apparent truncating stop codon in PRDM9, the generesponsible for localising recombination during meiosis. We plan to deep sequence motherand child with X10, and physically phase the mother with PacBio sequencing.We will use this data to identify recombination locations, and test whether these areconsistent with the known fine scale recombination map.
Study Datasets 1 dataset.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00001001686 |
In the autozygosity exome sequencing of Born-in-Bradford samples of Pakistani origin there
is a mother who is homozygous for an apparent truncating stop codon in PRDM9, the gene
responsible for localising recombination during meiosis. We plan to deep sequence mother
and child with X10, and physically phase the mother with PacBio sequencing.
We will use this data to identify recombination locations, and test whether these are
consistent with the known fine scale recombination map.
Data Access is ... (Show More)
|
HiSeq X Ten,Illumina HiSeq 2500 | 2 |
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