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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.

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 HiSeq X Ten Illumina HiSeq 2500 2
Publications Citations
Health and population effects of rare gene knockouts in adult humans with related parents.
Science 352: 2016 474-477
Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes.
Nat Commun 8: 2017 303
Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria.
Elife 9: 2020 e54363