Andrew P. Blair

A global view of human centromere variation and evolution

The paper assembles and characterizes 2,110 human centromeres, revealing novel haplotypes, mobile element insertions, and mutation rate variation across chromosomes.

HPRC2: A human pangenome reference with near-complete coverage of common genetic variation

460 haplotypes from 230 genomes, selected to maximize common-variant coverage, capture 99.43% of All of Us common small variants and halve structurally unreliable regions and base errors versus HPRC1.

Scalable and rare-variant aware genome inference across the 1kGP cohort

The paper improves genome inference by introducing haplotype sampling and polishing workflows, enhancing variant detection in the 1000 Genomes Project cohort.

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.

The paper analyzes chromosome 22q11.2 haplotypes to show how structural variations in specific regions correlate with microdeletion and inversion risks across populations.

Pangenome discovery of missing autism variants

The paper uses long-read sequencing to identify pathogenic variants in autism cases, finding three pathogenic mutations and nine candidate structural variants missed by short-read sequencing.

Cell Layers: Uncovering clustering structure and knowledge in unsupervised single-cell transcriptomic analysis

Cell Layers provides an interactive tool to explore single-cell clustering across resolutions, linking molecular data with cluster evaluation metrics.

Modeling human TBX5 haploinsufficiency predicts regulatory networks for congenital heart disease

The paper models TBX5 haploinsufficiency in iPSC-derived cardiomyocytes to identify gene regulatory network imbalances linked to congenital heart disease.

Chromatin remodeler Brahma safeguards canalization in cardiac mesoderm differentiation

This study shows that Brm deletion causes identity switches in cardiac mesoderm differentiation by altering chromatin accessibility and gene expression, revealing BRM's role in safeguarding developmental canalization.

Developmental co-emergence of cardiac and gut tissues modeled by human iPSC-derived organoids

This study shows that human iPSC-derived organoids can model the cooperative development of cardiac and gut tissues through paracrine signaling.

Biological Process Activity Transformation of Single Cell Gene Expression for Cross-Species Alignment

This paper transforms single-cell RNA-Seq data into biological process activities to enable cross-species alignment of cellular states.