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.

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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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