Sarah Kummerfeld

Pathogenic mitochondrial genome variation, heteroplasmy thresholding and mitochondrial constraint measures in a healthy older cohort

The paper analyzes mitochondrial DNA variation in a healthy older cohort, identifies pathogenic variants, and proposes improved heteroplasmy thresholding to reduce false positives.

Mitochondrial Disease variation in healthy older adults: a genotype-phenotype assessment linking pathogenic variants and mitochondrial constraint

The paper assesses mitochondrial disease variants and genome constraint in healthy older adults, finding no significant phenotype associations but suggesting constraint measures may relate to aging biomarkers.

Human genomic DNA is widely interspersed with i-motif structures

The paper identifies over 650,000 i-motif structures in human genomic DNA using immunoprecipitation and sequencing, showing their widespread distribution and association with highly expressed genes and G0/G1 phase upregulated genes.

AAnet resolves a continuum of spatially-localized cell states to unveil tumor complexity

AAnet identifies archetypal cell states in single-cell data to reveal tumor heterogeneity and spatial organization.

ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing data

ClinSV detects structural and copy number variants from whole genome sequencing data with high sensitivity and low false positive rates, outperforming clinical microarrays in identifying reportable variants.

The Gag Protein PEG10 Binds to RNA and Regulates Trophoblast Stem Cell Lineage Specification.

This study shows that PEG10 binds RNA and regulates trophoblast stem cell differentiation into placental lineages by stabilizing key RNAs like Hbegf.