PingHsun Hsieh

Long-read phased assemblies from two Papuans plus 47 HPRC genomes map archaic introgressed structural variants, revealing 11 candidate archaic centromeres and 16 candidate adaptive SVs.

This study identifies a chimpanzee-specific retroviral insertion that influences gene regulation and brain development, highlighting its role in human-chimpanzee brain divergence.

The paper analyzes genome-wide human chromosomal inversions, showing their impact on genetic diversity and disease, with distinct evolutionary outcomes based on inversion recurrence.

The paper characterizes the structural variation and diversification of the NPIP gene family in humans using long-read sequencing and identifies evidence of positive selection and novel gene models.

The paper introduces NAHRwhals, a method to detect serial structural variations in long-read genomes, identifies 37 sSV loci in humans, and shows their relevance to disease.

This study characterizes structural and genetic diversity in MUC5AC and MUC5B using long-read sequencing, revealing haplotype variation and evolutionary patterns across human and nonhuman primate populations.

The paper identifies a common flanking variant linked to increased meiotic stability at the FGF14-SCA27B repeat locus.

This study shows L1 retrotransposons contribute to human brain transcriptome complexity and functional diversification through cell-type specific transcripts and regulatory RNAs.

The paper assesses SNVs within human segmental duplications, finding increased mutation rates and interlocus gene conversion, along with distinct mutational spectra.

The paper identifies recurrent inversions in human genomes and links them to genomic disorders through mutational recurrence and structural diversity.

Mako detects complex structural variants using a graph-based pattern growth approach, achieving 70% validation rate on real data and identifying 15 CSV types including two novel ones.

This paper completes the linear assembly of human chromosome 8, resolves long-standing gaps, and analyzes the evolutionary history of its centromeric regions across great apes.

The paper presents 64 haplotype-resolved human genomes using long-read sequencing and identifies structural variants, SV-eQTLs, and adaptive selection candidates.

The paper identifies a human-specific structural variation at the ZNF558 locus that regulates a gene network involved in forebrain development by controlling SPATA18 expression through a VNTR contraction.

The paper identifies ultra-rare inherited mutations that are younger and preferentially transmitted to autism probands, revealing novel candidate genes and functional networks.