GestaltMatcher: rare disease matching using facial phenotypic descriptors

Published on Jun 14, 202324 Views

Kleefstra Syndrome Scientific Conference 2023: “Moving towards the uptake and use of Artificial Intelligence (AI) in research and clinical work”, Ljubljana 2023

GestaltMatcher: rare disease matching using facial phenotypic descriptors00:00

What I would like to talk about today00:15

Computer Vision00:39

Interpretation of the achieved accuracy Computer Vision and next generation phenotyping (NGP) in the last decade01:02

Facial analysis by DeepGestalt (Face2Gene)02:19

Number of genes - 103:05

Number of genes - 203:42

Number of genes - 303:46

Factors that affect the performance of an AI: Algorithms - 104:49

Factors that affect the performance of an AI: Algorithms - 205:09

Factors that affect the performance of an AI: Algorithms - 305:27

GestaltMatcher in research06:42

Lumping and Splitting06:48

Lumper and splitter06:57

Match patients07:41

SMARCA2 subgroups with two different episignatures - 108:25

SMARCA2 subgroups with two different episignatures - 209:32

SMARCA2 subgroups with two different episignatures - 309:46

Phenotypic evidence for lumping and splitting10:41

GMDB can do lumper and splitter analysis11:16

Gestalt scores for variant classification - 112:40

Gestalt scores for variant classification - 213:29

GestaltMatcher Database - 113:53

Fair Principles14:01

GestaltMatcher Database - 214:05

Gallery14:10

GMDB is a novel publication medium for dynamic case reports14:30

GMDB an image repository and a node in MME14:44

World wide effort from the research community14:53