Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification

M Dapas, A Dunaif - Endocrine reviews, 2022 - academic.oup.com
Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …

[HTML][HTML] The role of neurod genes in brain development, function, and disease

S Tutukova, V Tarabykin… - Frontiers in Molecular …, 2021 - frontiersin.org
Transcriptional regulation is essential for the correct functioning of cells during development
and in postnatal life. The basic Helix-loop-Helix (bHLH) superfamily of transcription factors is …

Importance of including non-European populations in large human genetic studies to enhance precision medicine

D Ju, D Hui, DA Hammond, A Wonkam… - Annual review of …, 2022 - annualreviews.org
One goal of genomic medicine is to uncover an individual's genetic risk for disease, which
generally requires data connecting genotype to phenotype, as done in genome-wide …

COVID-19 annual update: A narrative review

M Biancolella, VL Colona, L Luzzatto, JL Watt… - Human Genomics, 2023 - Springer
Three and a half years after the pandemic outbreak, now that WHO has formally declared
that the emergency is over, COVID-19 is still a significant global issue. Here, we focus on …

[图书][B] RNA, the epicenter of genetic information

J Mattick, P Amaral - 2023 - library.oapen.org
The origin story and emergence of molecular biology is muddled. The early triumphs in
bacterial genetics and the complexity of animal and plant genomes complicate an intricate …

The link between rheumatic disorders and inborn errors of immunity

G Sogkas, T Witte - EBioMedicine, 2023 - thelancet.com
Inborn errors of immunity (IEIs) are immunological disorders characterized by variable
susceptibility to infections, immune dysregulation and/or malignancies, as a consequence of …

How to estimate heritability: a guide for genetic epidemiologists

CJS Barry, VM Walker, R Cheesman… - International Journal …, 2023 - academic.oup.com
Traditionally, heritability has been estimated using family-based methods such as twin
studies. Advancements in molecular genomics have facilitated the development of methods …

Single-tube qPCR detection and quantitation of hotspot mutations down to 0.01% variant allele fraction

K Zhang, L Rodriguez, LY Cheng, M Wang… - Analytical …, 2021 - ACS Publications
Clinically and biologically, rare DNA sequence variants are significant and informative.
However, existing common detection technologies are either complex and time-consuming …

GWAS for genetics of complex quantitative traits: Genome to pangenome and SNPs to SVs and k‐mers

PK Gupta - BioEssays, 2021 - Wiley Online Library
The development of improved methods for genome‐wide association studies (GWAS) for
genetics of quantitative traits has been an active area of research during the last 25 years …

Population Structure and Diversity in European Honey Bees (Apis mellifera L.)—An Empirical Comparison of Pool and Individual Whole-Genome Sequencing

C Chen, M Parejo, J Momeni, J Langa, RO Nielsen… - Genes, 2022 - mdpi.com
Background: Whole-genome sequencing has become routine for population genetic studies.
Sequencing of individuals provides maximal data but is rather expensive and fewer samples …