Anna S. Pavlova

Analysis of MPXV RNA-seq Data Reveals Lack of Evidence of APOBEC3-mediated RNA Editing

The paper analyzes MPXV RNA-seq data to determine if APOBEC3 enzymes edit viral RNA, concluding that observed mutations result from DNA-level mutagenesis, not RNA editing.

Heterogeneous group of genetically determined auditory neuropathy spectrum disorders

The paper identifies genetic variants in ANSD patients and shows differences in auditory tests between ANSD and SNHL groups, suggesting ASSR testing for better diagnosis.

Candidate genes for IgA nephropathy in pediatric patients: exome-wide association study

This study identifies genetic variants associated with IgA nephropathy in pediatric patients through an exome-wide association analysis.

Performance Comparison Of Agilent New SureSelect All Exon v8 Probes With v7 Probes For Exome Sequencing

This study compares Agilent SureSelect All Exon v8 and v7 probes for exome sequencing, finding v8 improves SNV and indel detection with the same read count.

SYSTEM ANALYSIS OF THE SEQUENCING QUALITY OF HUMAN WHOLE EXOME SAMPLES ON BGI NGS PLATFORM

The paper compares a new WES protocol, RSMU_exome, to an existing MGI Tech kit, showing it detects more variants with higher sensitivity and specificity while being cheaper and allowing more samples to be pooled.

Runcer-Necromancer: A Method To Rescue Data From An Interrupted Run On MGISEQ-2000

The paper describes a method to recover data from an interrupted sequencing run on the MGISEQ-2000 platform by merging partial data files.