Elena Arciero

Himalayan whole-genome sequences provide insight into population formation and adaptation

The paper presents whole-genome sequences from 16 Himalayan populations to study population structure, adaptation, and genetic history, revealing early population divergence, shared adaptive haplotypes, and recent gene flow.

Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants

The paper identifies non-coding variants in trans with coding variants in patients with developmental disorders, finding them to be a rare cause of recessive disorders.

PIK3R3 is a candidate regulator of platelet count in people of Bangladeshi ancestry

The paper identifies PIK3R3 as a candidate regulator of platelet count in Bangladeshi ancestry individuals through GWAS and functional analysis.

Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistanis and Bangladeshis

This study assesses the transferability of genetic loci and polygenic scores for cardiometabolic traits from European-ancestry samples to British Pakistanis and Bangladeshis, finding high transferability for most loci but variable performance for polygenic scores.

Fine-scale population structure and demographic history of British Pakistanis

This study examines the population structure and demographic history of British Pakistanis, revealing strong recent structure and low effective population sizes due to endogamy and consanguinity.

A common 1.6 Mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans

The paper identifies a 1.6 Mb Y-chromosomal inversion in the AZFc region as a high-penetrant risk factor for male infertility, increasing the risk of spermatogenic failure by 8.6-fold.