J. Craig Venter

The Revised Diploid Genome Sequence of an Individual Human: An Optimized Assembly Workflow for Scaling of near Telomere-to-Telomere Assemblies

The paper revises a human diploid genome assembly using a scalable workflow with Oxford Nanopore reads, achieving high accuracy and contiguity without ultra-long reads or other technologies.

Selection-free whole genome transplantation revives dead microbes

The paper demonstrates a method to revive dead microbes by transplanting synthetic genomes, eliminating the need for antibiotic resistance markers in the process.

PEG Adjustment Enables Genome Transplantation Using Mycoplasma Mycoides Recipient

This study shows that increasing PEG concentration allows successful genome transplantation using Mycoplasma mycoides as recipient cells, expanding the potential for synthetic biology applications.

Functional characterization of 3D-protein structures informed by human genetic diversity

The paper uses human genetic data to analyze 3D protein structures and identifies intolerant sites that correlate with functional and drug target properties.

Precision Medicine Advancements Using Whole Genome Sequencing, Noninvasive Whole Body Imaging, and Functional Diagnostics

This study evaluates a precision health platform integrating whole genome sequencing and noninvasive clinical assessments in 1190 healthy participants, identifying significant genetic and phenotypic findings linked to disease risk.

Profound perturbation of the human metabolome by obesity

This study identifies metabolic and genetic signatures of obesity using metabolome analysis and whole genome sequencing in twin and volunteer cohorts, revealing clinically meaningful heterogeneity.

Unsupervised integration of multimodal dataset identifies novel signatures of health and disease

The paper integrates multimodal health data to identify novel biomarker signatures for health and disease, showing better predictive power for diabetes and hypertension than traditional biomarkers.

Paternally inherited noncoding structural variants contribute to autism

This study identifies rare paternally-inherited structural variants contributing to autism by disrupting noncoding regions and coding genes, with differential parental contributions.

Precision Medicine Screening Using Whole Genome Sequencing And Advanced Imaging To Identify Disease Risk In Adults

This paper screens adults using whole genome sequencing and imaging to detect age-related chronic disease risks, finding unrecognized diseases in 8% of participants and genomic correlations in 25%.

The human functional genome defined by genetic diversity

The paper analyzes genetic diversity across 11,257 human genomes to identify context-dependent conserved regions and their association with disease variants.

No major flaws in "Identification of individuals by trait prediction using whole-genome sequencing data"

The paper addresses criticisms of a previous study on identifying individuals from whole-genome sequencing data by demonstrating the limitations of Erlich's simulation and highlighting the algorithm's use of multiple trait-based predictive models.

Deep Sequencing of 10,000 Human Genomes

This study sequences 10,545 human genomes at 30-40x coverage, identifying 150 million variants and showing 84% of the genome can be confidently sequenced, with implications for clinical use.

Identification of misclassified ClinVar variants using disease population prevalence

The paper identifies misclassified variants in ClinVar by analyzing population prevalence and genetic risk patterns in whole genome sequencing data.