Grand Rounds

Genetics weekly archive

Diagnosis and management of hereditary disorders.

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Latest issue

Jul 4

Genetics in clinical risk and treatment decisions: five recent studies

Genome-Wide Association Study for Glucocorticoid-Induced Ocular Hypertension.Differentiating genetic and gene-environment interaction profiles of physical and mental health disorders.

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Weekly issues

GeneticsLatest first

2026

Feb 14

Issue 01

Weekly Grand Rounds

Bridging rare and common variation to mechanism across traits, tissues, and the lifespan

Whole-genome sequencing analysis of anthropometric traits in 672,976 individuals reveals convergence between rare and common genetic associations.eQTL in diseased colon tissue identifies potential target genes associated with IBD.

February 14, 2026

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Feb 7

Issue 02

Weekly Grand Rounds

Integrating structural, regulatory, and rare variation into risk prediction and diagnostics across diverse genetic disorders

Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes.Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.

February 7, 2026

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Jan 31

Issue 03

Weekly Grand Rounds

Genomic context, environment, and molecular intermediates refining risk and mechanism in complex disease

Population-scale sequencing resolves determinants of persistent EBV DNA.A cross-population compendium of gene-environment interactions.

January 31, 2026

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Jan 24

Issue 04

Weekly Grand Rounds

Genetic architecture updates: meiosis, cancer risk alleles, neurodevelopmental CNVs, and ancestry-aware complex trait models

Common variation in meiosis genes shapes human recombination and aneuploidy.Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.

January 24, 2026

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Jan 17

Issue 05

Weekly Grand Rounds

Sequencing beyond the exome: emerging tools reshaping rare disease diagnostics, variant interpretation, and future therapies

Long-read genome sequencing enhances diagnostics of pediatric neurological disorders.Simultaneous detection of small and large variants enhances the diagnosis of rare diseases using full genome sequencing.

January 17, 2026

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Jan 10

Issue 06

Weekly Grand Rounds

Genomic tools reshaping variant interpretation, targeting, and safety in human genetics

Linking the plasma proteome to genetics in individuals from continental Africa provides insights into type 2 diabetes pathogenesis.Long-read genome sequencing enhances diagnostics of pediatric neurological disorders.

January 10, 2026

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2025

Dec 27

Issue 01

Weekly Grand Rounds

Genomic tools at the bedside: splicing scores, polygenic context, repeat instability, and ancestry-tailored screening

A practical framework for predicting splicing single nucleotide variants in exome sequencing.Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction.

December 27, 2025

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Dec 20

Issue 02

Weekly Grand Rounds

Genomic tools refine disease mechanisms, risk prediction, and variant interpretation across cardiovascular, developmental, oncologic, and repeat-expansion disorders

Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction.Genetic profiling of the circulating proteome in common diseases suggests causal proteins and improves risk prediction.

December 20, 2025

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Dec 13

Issue 03

Weekly Grand Rounds

Translational genomics and editing tools moving toward clinical impact

Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.Genetic profiling of the circulating proteome in common diseases suggests causal proteins and improves risk prediction.

December 13, 2025

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Dec 6

Issue 04

Weekly Grand Rounds

Genomic tools reshaping prenatal, neuromuscular, and complex disease diagnostics

Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.From shadows to clarity: A new paradigm for comprehensive variant detection in undiagnosed dystrophinopathy using combined long-read and RNA sequencing.

December 6, 2025

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