William Richard McCombie

This paper benchmarks 7 TR genotyping tools using Nanopore long-read data, finding that no single tool is best across all metrics, and that sequence-level accuracy is crucial for clinical and population studies.

This study evaluates MALAT1-targeting ASOs in breast cancer using patient-derived organoid models, showing MALAT1's role in alternative splicing, metastasis, and tumor-stroma interactions.

This study characterizes the molecular differences in high-grade endometrial cancer across an ancestrally diverse cohort, identifying ancestry-associated mutations and immune microenvironment differences.

The paper identifies bi-directionally expressed enhancers in maize with domestication signatures using integrated epigenomic and transcriptomic data from multiple tissues and inbred lines.

This paper demonstrates that ONT Duplex sequencing combined with Pore-C data can assemble complete, high-quality human and plant chromosomes with base accuracy over 99.999%.

The paper uses long-read sequencing on 100 samples from the 1000 Genomes Project to identify structural variants and improve understanding of human genetic variation.

The paper uses pan-genomics and genome editing in Solanum to show that paralog diversification hinders genotype-phenotype predictability in crop domestication.

This study uses long-read whole genome sequencing from family cancer pedigrees to prioritize genetic variants in early-onset cancers, identifying potential disease-causing mutations.

This study compares neuronal phenotypes from monozygotic twins discordant for schizophrenia, finding differences in synaptic activity and neuronal maturation between affected and unaffected siblings.

This study uses long-read sequencing to analyze immune and cancer-related gene evolution in bats, finding gene contractions, expansions, and positive selection linked to their unique traits.

The paper presents the genome of the Wollemi pine, revealing ancient transposon activity and insights into its conservation and evolutionary history.

ACME improves targeted nanopore sequencing by increasing enrichment, depth, and read coverage for specific genomic regions.

This study shows ORC subunits and CDC6 are essential for pre-RC assembly, mitosis, and nuclear structure in human cells.

This study uses long-read sequencing to identify structural variants in breast cancer genomes, showing high accuracy and sensitivity compared to short-read methods.

The paper describes the development of a cloud-based platform for managing, analyzing, and distributing MaizeCODE data, enhancing reproducibility and accessibility.

The paper introduces a probabilistic method based on the birthday model to detect rare disease-related genetic variants in complex disorders, showing its effectiveness in identifying potential causative genes.

The paper uses long-read sequencing to analyze structural variations in the SK-BR-3 breast cancer cell line, revealing complex rearrangements and novel gene fusions.

The paper investigates rare disruptive variants in the DISC1 Interactome and Regulome, finding associations with schizophrenia and cognitive ability in psychiatric patients.

The paper improves the maize reference genome using single molecule technologies, resulting in longer contigs and better annotation of repetitive elements and genes.

The paper presents de novo genome assemblies of three rice strains, revealing novel gene spaces and structural variations not captured by reference-based resequencing.