CCG 2025

<p>9th Curating the Clinical Genome Conference</p>


Research

Contact an Author

Scientific Posters

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.

Get in Touch With Us

Contact a Sales Rep

Our Blog

Read our blog on why Ambry is using evidence-based quality testing.

Read More

Search Results

Start your search...