Kenichiro Hata

The elongation of Mest transcript into MestXL sustains, but does not initiate, the maternal allele bias of its convergent gene Copg2 during neurogenesis

The paper investigates the regulation of maternal allele bias in Copg2 during neurogenesis, showing it involves a two-step mechanism beyond MestXL-mediated interference.

Isolation of nucleated red blood cells with intact genomic DNA from cord blood by applying G&T-seq

The paper uses G&T-seq to isolate fetal nucleated red blood cells (fNRBCs) from cord blood and assesses their genomic integrity for noninvasive prenatal testing.

Exploring the genetic diversity of the Japanese Population: Insights from a Large-Scale Whole Genome Sequencing Analysis

This study uses whole-genome sequencing of 9,850 Japanese samples to analyze genetic diversity, revealing population declines and natural selection linked to agriculture and food production.

Biallelic non-productive enhancer-promoter interaction precedes imprinted expression of Kcnk9 during mouse neural commitment

The paper investigates allele-specific enhancer-promoter interactions in an imprinted domain during mouse neural commitment, finding that biallelic interactions occur but only maternal ones are productive.

Re-evaluation of whole exome sequencing, including intronic region, in combination with genetic intolerance score for foetal structural anomalies, is helpful for diagnosis, especially in X-linked disorders

This study improves diagnostic yield in fetal structural anomalies using whole exome sequencing by re-evaluating variants, including introns, with LOEUF scores, particularly for X-linked disorders.

DNA methylation signature in NSD2 loss-of-function variants appeared similar to that in Wolf-Hirschhorn syndrome

The paper identifies DNA methylation signatures associated with NSD2 loss-of-function variants and shows their similarity to those in Wolf-Hirschhorn syndrome.