Mark D. Yandell

The paper identifies a 2:1 male offspring ratio in a human family, suggesting potential segregation distortion caused by a distorting Y-chromosome.

This study uses AI to show that genome sequencing can predict adverse outcomes after congenital heart defect surgery by identifying damaging genotypes in specific genes.

The paper evaluates MPSE's performance in prioritizing NICU newborns for WGS within 48 hours using various ML classifiers, CNLP tools, and data types, finding high accuracy and flexibility.

This study identifies genetic variants in epilepsy, cardiomyopathy, and arrhythmia genes in a sudden death in the young cohort, finding enrichment of damaging variants and a correlation with younger age at death.

The paper presents high-quality genome assemblies and annotations for two pigeon species using long-read sequencing of an F1 hybrid, improving genomic resources for comparative genomics and functional studies.

The paper examines how genetic, demographic, and clinical factors interact to influence neurodevelopmental outcomes in children with single ventricle heart disease.

This paper estimates offspring genetic risk scores from parental DNA and finds that they can be accurately estimated with percent errors below 10% for most traits.

GEM, an AI-based tool, ranks causal genes highly for rare genetic diseases, improving diagnostic efficiency and reducing manual effort.

The paper identifies a ROR2 coding variant associated with short beak morphology in domestic pigeons, linking it to craniofacial variation through QTL mapping and genomic analysis.

This study identifies two genomic loci associated with iris color variation in domestic pigeons, linking iris and plumage color traits and highlighting the role of gene duplicates in color evolution.

The paper uses deep whole genome sequencing to analyze genetic variants in CDH patients and their families, revealing heterogeneous and multifactorial genetic etiology.

The paper identifies a copy number variant at the St locus associated with pigmentation patterns in rock pigeons, linking structural variation to gene expression and phenotypic diversity.

The paper updates the rock pigeon genome assembly and annotation, improving tools for evolutionary and functional genetic studies.