Mahoko Takahashi Ueda

The paper identifies rare variants in CRHR2 and GRM8 as candidate susceptibility factors for eating disorders in Japanese patients through whole exome sequencing of affected sib-pairs.

The paper generates a comprehensive atlas of alternative splicing in human immune cells using long-read sequencing, identifies unannotated transcripts, and links isoforms to disease through quantitative trait loci and GWAS data.

The paper analyzes 176,401 ERV-ORFs across 19 mammalian genomes to determine their transcriptional potential and evolutionary dynamics.

The paper benchmarks 44 sequence compressors on FASTA-formatted data, identifying optimal tools based on performance metrics like compression ratio and speed.

This study shows that microgrooved PLA nanosheets enhance neuronal differentiation and gene expression related to synaptic structures compared to flat nanosheets.

The paper introduces NAF, a lossless reference-free compression format for DNA sequences that offers faster decompression than existing tools while maintaining comparable compression ratios.

The paper identifies a susceptibility variant in CCHCR1 associated with alopecia areata and shows its effect in mice with patched hair loss.

The paper uses nanopore sequencing to accurately sequence the D4Z4 repeat array associated with FSHD, demonstrating high accuracy and potential for molecular diagnosis.