Sangmoon Lee

Benchmarked sequencing methods reveal hidden mosaic variation in the human brain

The paper benchmarks sequencing methods to recover mosaic variants in human brain tissue and introduces RIVER to enhance variant detection across methods.

Comprehensive Genetic Profiling of Sensorineural Hearing Loss Using an Integrative Diagnostic Approach

This study uses whole-genome sequencing and functional assays to improve genetic diagnosis of sensorineural hearing loss, achieving a 55.6% diagnostic yield through comprehensive genomic profiling.

The contribution of de novo coding mutations to meningomyelocele

The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.

Whole Genome Sequencing in Adolescent Idiopathic Scoliosis Cohort Indicates Polygenic Disease Involving Multiple Biological Pathways

This study uses whole-genome sequencing to identify genetic variations and biological pathways associated with adolescent idiopathic scoliosis.

Analytical and clinical validation of a genome sequencing-based comprehensive rare disease genomic profiling test.

This study validates a whole-genome sequencing assay for rare disease genomic profiling, showing high sensitivity and positive predictive values for variant detection.

Target-enhanced whole-genome sequencing (TE-WGS) shows clinical validity equivalent to commercially available targeted oncology panel

This study compares target-enhanced whole-genome sequencing (TE-WGS) with a commercial targeted panel, showing TE-WGS detects all variants and provides additional clinical insights.

Clinical application of whole-genome sequencing for precision oncology of solid tumors

This study evaluates the clinical utility of whole-genome sequencing in solid tumors, showing 72% of reports provided clinically relevant insights and 69% aided therapeutic decision-making.

Analytical and clinical validation of a targeted-enhanced whole genome sequencing-based comprehensive genomic profiling test.

The paper validates a targeted-enhanced whole-genome sequencing assay for oncology genomic profiling, showing high sensitivity and specificity for SNVs and indels, and high concordance with reference methods.

Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome

The paper identifies somatic uniparental disomy in EFL1 as a mechanism that mitigates severe SDS by allowing milder variants to dominate in bone marrow cells.

Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population

The paper identifies pathogenic variants in 57.5% of 553 undiagnosed neurodevelopmental patients, revealing a high proportion of recessive variants and their potential for carrier screening.

Comprehensive genetic analysis by whole exome sequencing in 352 Korean pediatric patients with unknown neurodevelopmental disorders

This study uses whole exome sequencing to diagnose 352 Korean pediatric patients with undiagnosed neurodevelopmental disorders, identifying pathogenic variants in 57.4% of cases.