Aakrosh Ratan

An auto-generated ADP-ribosyl-cysteine degron drives DTX2-dependent turnover of PARP7

This study identifies an ADP-ribosyl-cysteine degron in PARP7 that is recognized by DTX2, leading to PARP7 degradation and affecting AR signaling in prostate cancer.

Patient-informed CRISPR Screen Identifies FLNB as a Novel Congenital Heart Disease and Ciliopathy Gene

The paper uses a CRISPR screen in Xenopus to identify FLNB as a novel gene associated with congenital heart disease and ciliopathies.

Compound heterozygous DAW1 variants reveal tissue-specific roles in left-right patterning and congenital heart disease without primary ciliary dyskinesia

The paper identifies DAW1 variants in a patient with heterotaxy and congenital heart disease, showing tissue-specific functional effects without primary ciliary dyskinesia.

Parp7 generates an ADP-ribosyl degron that controls negative feedback of androgen signaling

The paper identifies PARP7 as an enzyme that ADP-ribosylates the androgen receptor, marking it for degradation and creating negative feedback on AR-dependent gene expression.

Loss of DHX36/G4R1, a G4 resolvase, drives genome instability and regulates innate immune gene expression in cancer cells

This study shows that loss of DHX36/G4R1 increases genome instability and innate immune gene expression in cancer cells, correlating with improved survival in B-cell acute lymphoblastic leukemia.

Balancing selection and the functional effects of shared polymorphism in cryptic Daphnia species

This study examines shared polymorphisms in Daphnia species, finding that balancing selection and convergent evolution explain their distribution, with functional effects on behavior and fitness.

Structural variation across 138,134 samples in the TOPMed consortium

The paper presents a comprehensive catalog of structural variants across 138,134 individuals, identifying novel variants and their associations with cardio-metabolic and hematologic traits.

Genomic Analyses of the Metastasis-derived LNCaP, VCaP, and PC3-AR Prostate Cancer Cell Lines

The paper reports genomic analyses of prostate cancer cell lines, identifying mutations and chromothripsis events associated with TP53 inactivation.

Whole genome sequencing identifies common and rare structural variants contributing to hematologic traits in the NHLBI TOPMed program

Genotyping common, large structural variations in 5,202 genomes using pangenomes, the Giraffe mapper, and the vg toolkit

The paper introduces Giraffe, a pangenome mapper that improves genotyping of SNVs, indels, and SVs in 5,202 human genomes using the vg toolkit.

Human ACE2 receptor polymorphisms predict SARS-CoV-2 susceptibility

This study identifies ACE2 receptor polymorphisms that may influence susceptibility to SARS-CoV-2 by altering the interaction between ACE2 and the viral S-protein.

Cancer-specific CTCF binding facilitates oncogenic transcriptional dysregulation

The paper identifies cancer-specific CTCF binding patterns across six cancer types and shows they are linked to oncogenic transcriptional changes without always involving DNA methylation or mutations.

Data Integration with SUMO Detects Latent Relationships Between Patients in Lower-Grade Gliomas

The paper integrates multi-omic data to identify a prognostic subtype in lower-grade gliomas with genomic features similar to Grade IV gliomas.

SVXplorer: Identification of structural variants through overlap of discordant clusters

SVXplorer identifies structural variants by integrating discordant clusters, improving accuracy and reproducibility over existing methods.

The Pan-Cancer Landscape of Prognostic Germline Variants in 10,582 Patients

The paper identifies prognostic germline variants in 10,582 cancer patients using multivariate Cox regression, showing their association with patient outcomes beyond clinical data.

Functional architecture of deleterious genetic variants in the Wrangel Island mammoth genome

This study identifies deleterious mutations in Wrangel Island mammoths and shows their potential functional impacts on development, fertility, and sensory abilities.

Augmented Interval List: a novel data structure for efficient genomic interval search

The paper introduces AIList, a data structure for efficient genomic interval search, which outperforms existing methods in speed and memory usage.

Genomic variants among threatened Acropora corals

The paper develops genomic resources and workflows for two threatened Acropora corals, identifies genetic differences in key pathways, and provides candidate loci for genotyping.

Elephantid genomes reveal the molecular bases of Woolly Mammoth adaptations to the arctic

This study identifies genetic changes in woolly mammoths that underlie adaptations to arctic environments by analyzing genome sequences and functionally testing specific genes.