Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
C Pedicone, SA Weitzman, AE Renton… - Molecular …, 2024 - Springer
A~ 1 Mb inversion polymorphism exists within the 17q21. 31 locus of the human genome as
direct (H1) and inverted (H2) haplotype clades. This inversion region demonstrates high …
direct (H1) and inverted (H2) haplotype clades. This inversion region demonstrates high …
[HTML][HTML] Deciphering the role of structural variation in human evolution: a functional perspective
Advances in sequencing technologies have enabled the comparison of high-quality
genomes of diverse primate species, revealing vast amounts of divergence due to structural …
genomes of diverse primate species, revealing vast amounts of divergence due to structural …
Identifying genetic variants associated with chromatin looping and genome function
S Bhattacharyya, F Ay - Nature Communications, 2024 - nature.com
Here we present a comprehensive HiChIP dataset on naïve CD4 T cells (nCD4) from 30
donors and identify QTLs that associate with genotype-dependent and/or allele-specific …
donors and identify QTLs that associate with genotype-dependent and/or allele-specific …
Shared genetic determinants of schizophrenia and autism spectrum disorder implicate opposite risk patterns: A genome-wide analysis of common variants
Y Chen, W Li, L Lv, W Yue - Schizophrenia Bulletin, 2024 - academic.oup.com
Abstract Background and Hypothesis The synaptic pruning hypothesis posits that
schizophrenia (SCZ) and autism spectrum disorder (ASD) may represent opposite ends of …
schizophrenia (SCZ) and autism spectrum disorder (ASD) may represent opposite ends of …
Human‐specific insights into candidate genes and boosted discoveries of novel loci illuminate roles of neuroglia in reading disorders
WH Wei, S Ma, B Fu, R Song… - Genes, Brain and …, 2024 - Wiley Online Library
Reading disorders (RD) are human‐specific neuropsychological conditions associated with
decoding printed words and/or reading comprehension. So far only a handful of candidate …
decoding printed words and/or reading comprehension. So far only a handful of candidate …
The pleiotropic architecture of human impulsivity across biological scales
Impulsivity is a complex psychological construct that represents a core feature of many
psychiatric and neurological conditions. Here, we used multivariate methods to formally …
psychiatric and neurological conditions. Here, we used multivariate methods to formally …
Transcriptome-wide association analysis identifies candidate susceptibility genes for prostate-specific antigen levels in men without prostate cancer
Deciphering the genetic basis of prostate-specific antigen (PSA) levels may improve their
utility for prostate cancer (PCa) screening. Using genome-wide association study (GWAS) …
utility for prostate cancer (PCa) screening. Using genome-wide association study (GWAS) …
MAPT Locus in Parkinson's Disease Patients of Ashkenazi Origin: A Stratified Analysis
S Shani, M Gana-Weisz, A Bar-Shira, A Thaler… - Genes, 2023 - mdpi.com
Introduction: MAPT locus is associated with Parkinson's disease (PD), which is located
within a large inversion region of high linkage disequilibrium (LD). We aimed to determine …
within a large inversion region of high linkage disequilibrium (LD). We aimed to determine …
Critical reasoning on the co-expression module QTL in the dorsolateral prefrontal cortex
Expression quantitative trait locus (eQTL) analysis is a popular method of gaining insight
into the function of regulatory variation. While cis-eQTL resources have been instrumental in …
into the function of regulatory variation. While cis-eQTL resources have been instrumental in …
CRISPR-mediated chromosome deletion facilitates genetic mapping of Vip3Aa resistance gene within complex genomic region in an invasive global pest
M Jin, Y Shan, Y Peng, S Chen, X Zhou, K Liu, Y Xiao - bioRxiv, 2024 - biorxiv.org
Connecting genetic variation to phenotypes and understanding the underlying biological
mechanisms has been a fundamental goal of biological genetics. Here, we used the …
mechanisms has been a fundamental goal of biological genetics. Here, we used the …