Article
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
American journal of human genetics - 6 Jun 2024
Pagnamenta Alistair T, Yu Jing, Walker Susan, Noble Alexandra J, Lord Jenny, Dutta Prasun, Hashim Mona, Camps Carme, Green Hannah, Devaiah Smrithi, Nashef Lina, Parr Jason, Fratter Carl, Ibnouf Hussein Rana, Lindsay Sarah J, Lalloo Fiona, Banos-Pinero Benito, Evans David, Mallin Lucy, Waite Adrian, Evans Julie, Newman Andrew, Allen Zoe, Perez-Becerril Cristina, Ryan Gavin, Hart Rachel, Taylor John, Bedenham Tina, Clement Emma, Blair Ed, Hay Eleanor, Forzano Francesca, Higgs Jenny, Canham Natalie, Majumdar Anirban, McEntagart Meriel, Lahiri Nayana, Stewart Helen, Smithson Sarah, Calpena Eduardo, Jackson Adam, Banka Siddharth, Titheradge Hannah, McGowan Ruth, Rankin Julia, Shaw-Smith Charles, Evans D Gareth, Burghel George J, Smith Miriam J, Anderson Emily, Madhu Rajesh, Firth Helen, Ellard Sian, Brennan Paul, Anderson Claire, Taupin Doug, Rogers Mark T, Cook Jackie A, Durkie Miranda, East James E, Fowler Darren, Wilson Louise, Igbokwe Rebecca, Gardham Alice, Tomlinson Ian, Baralle Diana, Uhlig Holm H, Taylor Jenny C
Abstract excerpt
Detection of structural variants (SVs) is currently biased toward those that alter copy number. The relative contribution of inversions toward genetic disease is unclear. In this study, we analyzed genome sequencing data for 33,924 families with rare disease from the 100,000 Genomes Project. From a database hosting >500 million SVs, we focused on 351 genes where haploinsufficiency is a confirmed disease mechanism...
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