Susan Walsh

The craniofacial shape of modern humans embodies genomic signatures of evolution, diversity, and clinical conditions

The paper uses 3D craniofacial data and genome-wide association analysis to link craniofacial variation to genetic diversity, evolutionary processes, and clinical conditions in modern humans.

Advancing Genotype-Phenotype Analysis through 3D Facial Morphometry: Insights from Cri-du-Chat Syndrome

This paper uses 3D facial morphometry to analyze facial shape changes in Cri-du-Chat syndrome and related genetic conditions, identifying genotype-phenotype correlations and critical genomic regions.

Clustering individuals using INMTD: a novel versatile multi-view embedding framework integrating omics and imaging data

INMTD integrates omics and 3D imaging data to produce unconfounded individual subgroups with biologically meaningful embeddings.

Mapping genes for human face shape: exploration of univariate phenotyping strategies

This study compares univariate phenotyping strategies for 3D facial shape in GWAS, finding that inter-landmark distances and AE-derived dimensions show higher heritability than facial resemblance to gestalts.

Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population

The paper identifies genomic loci associated with achondroplasia-like facial variation in the general population using a syndrome-informed phenotyping approach.

Exploring ancestry inference of the Middle East

The paper identifies and evaluates ancestry informative markers (AIMs) for the Middle East using whole-genome sequencing data and a deep learning tool for ancestry visualization.

A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis

The paper identifies a SNP that regulates facial shape and disease risk by affecting PKDCC expression during chondrogenesis, showing its impact on both normal variation and clefting.

Automated 3D Landmarking of the Skull: A Novel Approach for Craniofacial Analysis

This paper introduces a single-surface craniofacial bone mask and MeshMonk framework for automated 3D landmarking of human skulls, achieving high accuracy and reliability in phenotyping.

netMUG: a novel network-guided multi-view clustering workflow for dissecting genetic and facial heterogeneity

netMUG identifies actionable subgroups using network-guided multi-view clustering, showing improved performance over existing methods in synthetic and real data.

Data-driven trait heritability-based extraction ofhuman facial phenotypes

This paper introduces a method to extract genetically relevant facial phenotypes by optimizing trait heritability, showing higher heritability and better GWAS performance compared to principal components.

Joint Multi-Ancestry and Admixed GWAS Reveals the Complex Genetics behind Human Cranial Vault Shape

This study performs a joint multi-ancestry and admixed GWAS on cranial vault shape, identifying 30 genome-wide significant loci and highlighting genetic pathways involved in craniofacial development.

ILIAD: A suite of automated Snakemake workflows for processing genomic data for downstream applications

ILIAD automates genomic data processing into VCF files for downstream applications using Snakemake, Singularity, and Docker, improving efficiency and reproducibility.

Hybrid Autoencoder with Orthogonal Latent Space for Robust Population Structure Inference

This paper introduces a hybrid autoencoder method for robust population structure inference, improving accuracy in the presence of missing data and relatedness.

Insights into the genetic architecture of the human face

This study identifies 203 genomic regions associated with facial variation using GWAS on multivariate shape phenotypes, revealing novel regions and epistatic interactions.

Shared heritability of face and brain shape distinct from cognitive traits

This study identifies shared genetic loci influencing brain and facial shape, distinct from cognitive traits, suggesting a developmental link between brain and face formation.

Robust Genome-Wide Ancestry Inference for Heterogeneous Datasets and Ancestry Facial Imaging based on the 1000 Genomes Project

This paper introduces SUGIBS, a robust genome-wide ancestry inference method, and applies it to predict ancestry faces using the 1000 Genomes Project and facial imaging data.