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 (4 Posters)
Cambridge Old town, England, United Kingdom
Thursday, June 12
6:10 PM – 7:10 PM
4 Posters
Quantifying phenotypic specificity (PP4) of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer
Abstract
Poster
Alice Garrett, Alison Callaway, Avgi Andreou, Bethan Frugtniet, Carrie Horton, Charlie F. Rowlands, Clare Turnbull, Eamonn R. Maher, George J. Burghel, Helen Hanson, Joanne Field, Jonathan Grant, Judith Pagan, Katie Snape, Marcy Richardson, Miranda Durkie, Rachel Robinson, Samantha Butler, Sheila Palmer-Smith, Sophie Allen, Terri McVeigh, Tina Pesaran, MA, MS, CGC, Trudi McDevitt
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
Alice Garrett, Alison Callaway, Bethan Frugtniet, Charlie F. Rowlands, Clare Turnbull, Fergus Couch, Fiona E. McRonald, George J. Burghel, Helen Hanson, Joanne Field, Jonathan Grant, Jo Pethick, Judith Pagan, Katie Snape, Katrina Lavelle, Marcy E. Richardson, Miranda Durkie, Rachel Robinson, Sally Vernon, Sheila Palmer-Smith, Sophie Allen, Steven Hardy, Terri McVeigh, Tina Pesaran, MA, MS, CGC, Trudi McDevitt
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
Alice Garrett, Alison Callaway, Bethan Frugtniet, Charlie F. Rowlands, Clare Turnbull, Fergus Couch, Fiona E. McRonald, George J. Burghel, Helen Hanson, Joanne Field, Jonathan Grant, Jo Pethick, Judith Pagan, Katie Snape, Katrina Lavelle, Marcy E. Richardson, Miranda Durkie, Rachel Robinson, Sally Vernon, Sheila Palmer-Smith, Sophie Allen, Steven Hardy, Terri McVeigh, Tina Pesaran, MA, MS, CGC, Trudi McDevitt