Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing

Autor: Lynne J, Hocking, Claire, Andrews, Christine, Armstrong, Morad, Ansari, David, Baty, Jonathan, Berg, Therese, Bradley, Caroline, Clark, Austin, Diamond, Jill, Doherty, Anne, Lampe, Ruth, McGowan, David J, Moore, Dawn, O'Sullivan, Andrew, Purvis, Javier, Santoyo-Lopez, Paul, Westwood, Michael, Abbott, Nicola, Williams, Timothy J, Aitman, Margo, Whiteford

Publikováno v: Hocking, L J, Andrews, C, Armstrong, C, Ansari, M, Baty, D, Berg, J, Bradley, T, Clark, C, Diamond, A, Doherty, J, Lampe, A, McGowan, R, Moore, D J, O'Sullivan, D, Purvis, A, Santoyo-Lopez, J, Westwood, P, Abbott, M, Williams, N & Aitman, T J & Miedzybrodzka, Z 2022, ' Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing ', European Journal of Human Genetics, vol. 31 . https://doi.org/10.1038/s41431-022-01226-3

NHS genetics centres in Scotland sought to investigate the Genomics England 100,000 Genomes Project diagnostic utility to evaluate genome sequencing for in rare, inherited conditions. Four regional services recruited 999 individuals from 394 families

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f09a3b01751706f954ef04300960a4c0
https://pubmed.ncbi.nlm.nih.gov/36474026