PRDM9_loss_of_function_follow_up_from_Born_in_Bradford_Autozygosity_sequencing

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.

Type: Whole Genome Sequencing
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 3 Publications

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 controlled by the Wellcome Trust Sanger Institute DAC and the Born In Bradford Executive Group.	HiSeq X Ten Illumina HiSeq 2500	2

Publications	Citations
Health and population effects of rare gene knockouts in adult humans with related parents. Narasimhan VM, Hunt KA, Mason D, Baker CL, Karczewski KJ, Karczewski KJ, Barnes MR, Barnett AH, Bates C, Bellary S, Bockett NA, Giorda K, Griffiths CJ, Hemingway H, Jia Z, Kelly MA, Khawaja HA, Lek M, McCarthy S, McEachan R, O'Donnell-Luria A, Paigen K, Parisinos CA, Sheridan E, Southgate L, Tee L, Thomas M, Xue Y, Schnall-Levin M, Petkov PM, Tyler-Smith C, Maher ER, Trembath RC, MacArthur DG, Wright J, Durbin R, van Heel DA. Science 352: 2016 474-477	174
Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes. Narasimhan VM, Rahbari R, Scally A, Wuster A, Mason D, Xue Y, Wright J, Trembath RC, Maher ER, van Heel DA, Auton A, Hurles ME, Tyler-Smith C, Durbin R. Nat Commun 8: 2017 303	44
Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria. McGregor TL, Hunt KA, Yee E, Mason D, Nioi P, Ticau S, Pelosi M, Loken PR, Finer S, Lawlor DA, Fauman EB, Huang QQ, Griffiths CJ, MacArthur DG, Trembath RC, Oglesbee D, Lieske JC, Erbe DV, Wright J, van Heel DA. Elife 9: 2020 e54363	33