Cambridge Old town, England, United Kingdom
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9th Curating the Clinical Genome Conference

CCG 2025

June 11 – 13
Hinxton, England
Directions RSVP
Thursday
June 12
  • Poster Session 6:10 PM – 7:10 PM (3 Posters)
Cambridge Old town, England, United Kingdom
Thursday, June 12
6:10 PM – 7:10 PM
3 Posters
Quantifying phenotypic specificity (PP4) of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer
Abstract
Poster
Carrie Horton, Tina Pesaran, MA, MS, CGC, Marcy Richardson, Sophie Allen, Charlie F. Rowlands, Samantha Butler, Miranda Durkie, 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
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
Abstract
Poster
Fergus Couch, Marcy E. Richardson, Tina Pesaran, MA, MS, CGC, Sophie Allen, Charlie F. Rowlands, Alice Garrett, 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