Human Genetics and Genomics Advances - 2021

32 articles | Last updated: 2025-12-03 14:12:57

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Lessons learned from the eMERGE Network: balancing genomics in discovery and practice
Inclusion of variants discovered from diverse populations improves polygenic risk score transferability
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes
Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation
Multi-ancestry genome-wide association study accounting for gene-psychosocial factor interactions identifies novel loci for blood pressure traits
Cultivating diversity as an ethos with an anti-racism approach in the scientific enterprise
Genetic ancestry and ethnic identity in Ecuador
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta
Centering Equity in Human Genetics and Genomics Advances
AHDC1 missense mutations in Xia-Gibbs syndrome
Polygenic risk scores in the clinic: Translating risk into action
Long-read technologies identify a hidden inverted duplication in a family with choroideremia
Pleiotropy-guided transcriptome imputation from normal and tumor tissues identifies candidate susceptibility genes for breast and ovarian cancer
Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals
BinomiRare: A robust test for association of a rare genetic variant with a binary outcome for mixed models and any case-control proportion
Genome-wide survey of parent-of-origin-specific associations across clinical traits derived from electronic health records
Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate
Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease
MUNIn: A statistical framework for identifying long-range chromatin interactions from multiple samples
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders
Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease
Genomic medicine and the “loss of chance” medical malpractice doctrine
PTPN4 germline variants result in aberrant neurodevelopment and growth
Genetic discovery and risk characterization in type 2 diabetes across diverse populations
Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation
“Is that something that should concern me?”: a qualitative exploration of parent understanding of their child’s genomic test results
The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder
Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3
Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders
Transcriptome prediction performance across machine learning models and diverse ancestries