Monkol Lek

The paper identifies rare genetic variants in DYM causing Dyggve-Melchior-Clausen disease through reanalysis of whole-exome sequencing data from affected individuals.

This study identifies unique myofiber populations in XLMTM using transcriptomics and shows they respond to therapeutic interventions across species.

The paper systematically evaluates SGCA variant effects using saturation mutagenesis to distinguish functional and non-functional variants, revealing domain-specific constraints in sarcoglycanopathies.

The paper identifies mitochondrial DNA variants in undiagnosed rare disease families using exome and genome sequencing data, leading to diagnoses in 0.4% of cases.

This study shows that mitochondrial heteroplasmy improves risk prediction for myeloid neoplasms when added to existing CHIP-based models.

The paper develops a mitochondrial constraint model applied to gnomAD data, revealing strong depletion of expected variation and identifying constrained regions in mtDNA.

The paper develops a cell type-aware framework to identify non-coding variants in Mendelian disorders by integrating single-cell multi-omic data and applying it to congenital cranial dysinnervation disorders.

The paper curates 31 genes associated with limb girdle muscular dystrophy (LGMD) using an expert panel and clinical validity framework, identifying 35 gene-disease relationships with varying levels of evidence.

This study shows that alpha-actinin-3 deficiency improves cold tolerance through enhanced mitochondrial function and reduced muscle mass loss during acute cold exposure.

This study uses untargeted proteomics to rapidly prioritize genetic variants in mitochondrial and other rare diseases, achieving functional evidence for 83% of cases in a cohort.

This paper introduces SMuRF, a framework for deep mutational scanning in disease-related genes, generating functional scores for all coding variants and aiding in variant interpretation.

The paper uses primate genetic data to predict human variant pathogenicity with a deep learning classifier trained on 4.3 million common missense variants.

This study identifies that heteroplasmic mitochondrial mutations increase mortality risk and are linked to cancer incidence and outcomes, particularly leukemia.

The paper estimates the global and population-specific birth prevalence of LAMA2 congenital muscular dystrophy using population genetic data and Bayesian methods.

MitoVisualize provides a tool for analyzing and visualizing variants in human mitochondrial DNA, including their effects on RNA structures and locations within the circular mtDNA map.

The paper presents a pipeline to call mitochondrial DNA variants in gnomAD, reporting population frequencies for 10,850 unique mtDNA variants across 56,434 individuals.

The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.

This paper shows that Cys1 gene mutations cause ARPKD by altering Myc expression, using mouse models and a human patient case.

The paper identifies dispersed duplications and de novo structural mutations using whole-genome sequencing data from 706 families by analyzing IBD relationships and copy number variations.

From 125,748 exomes and 15,708 genomes, 443,769 high-confidence predicted loss-of-function variants yield LOEUF, a continuous gene intolerance score tracking mouse lethality, cell essentiality, and disease associations.

This paper introduces Linked-Reads as a method to comprehensively analyze genome variation, showing it can detect both small and large variants and reconstruct haplotypes more effectively than short-read sequencing.

This study identifies genetic mutations in 78% of Diamond-Blackfan anemia patients using whole exome sequencing, finds new RP genes, and reports genotype-phenotype associations.

STRetch detects pathogenic short tandem repeat expansions in whole genome sequencing data, revealing novel disease-causing STRs with low false discovery rate.

The paper identifies non-coding mutations as a significant cause of RPGRIP1-mediated inherited retinal degeneration in patients with single coding mutations.

Per-sample assembly with gVCF output, followed by joint genotyping, lets GATK HaplotypeCaller scale linearly with cohort size while calling indels more accurately than SAMtools, UnifiedGenotyper or Platypus.

The paper develops S-PrediXcan to compute gene expression associations from GWAS summary data and applies it to 44 GTEx tissues and 100+ phenotypes, finding tissue-specific effects and colocalized associations.

Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients for whom genetic analysis has not returned a diagnosis.

The paper shows that many de novo protein truncating variants in neurodevelopmental disorders are common in population cohorts and do not contribute to risk, using data from 9246 families and 60,706 adults.

The paper introduces an open-source browser for displaying genetic variation data from 60,706 exomes, focusing on variant interpretation and gene function.