<p>9th Curating the Clinical Genome Conference</p>
Poster # tbd
Thursday, June 12, 2025 6:10 - 7:10pm Abstract Poster
Sophie Allen, Charlie F. Rowlands, Alice Garrett, Fergus Couch, Marcy E. Richardson, Tina Pesaran, Jo Pethick, Katrina Lavelle, Fiona E. McRonald, Sally Vernon, Miranda Durkie, George J. Burghel, Alison Callaway, Rachel Robinson, Joanne Field, Bethan Frugtniet, Sheila Palmer-Smith, Jonathan Grant, Judith Pagan, Trudi McDevitt, Katie Snape, Helen Hanson, Terri McVeigh, Steven Hardy, Clare Turnbull. Applying a PS4 likelihood ratio methodology (LR-Calc) for integrating enriched case data from national laboratory testing (NHS GLH Laboratories, Ambry Genetics) into large-scale case-control analyses.
Poster # tbd
Thursday, June 12, 2025 6:10 - 7:10pm Abstract Poster Video
Dana Burow, Katie Yergert, Claire Watson, Melissa Samons, Matthew Johnson, Laura Hudish, Audrey O’Neill, Steven Harrison, Wendy Alcaraz. Development of population frequency thresholds specific for rare neurodevelopmental disorders.
Poster # tbd
Thursday, June 12, 2025 6:10 - 7:10pm Abstract Poster
Sophie Allen, Charlie F. Rowlands, Samantha Butler, Miranda Durkie, Carrie Horton, Tina Pesaran, Marcy Richardson, Rachel Robinson, Alice Garrett, George J. Burghel, Alison Callaway, Joanne Field, Bethan Frugtniet, Sheila Palmer-Smith, Jonathan Grant, Judith Pagan, Trudi McDevitt, Katie Snape, Avgi Andreou, Eamonn R. Maher, Helen Hanson, Terri McVeigh, Clare Turnbull. Quantifying phenotypic specificity (PP4) of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer.