Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification
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 …
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …
CRISPR–Cas9 gRNA efficiency prediction: an overview of predictive tools and the role of deep learning
The clustered regularly interspaced short palindromic repeat (CRISPR)/CRISPR-associated
protein 9 (Cas9) system has become a successful and promising technology for gene …
protein 9 (Cas9) system has become a successful and promising technology for gene …
A genomic mutational constraint map using variation in 76,156 human genomes
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders,,–, but …
been widely used to investigate protein-coding genes underlying human disorders,,–, but …
[HTML][HTML] Multi-omics single-cell data integration and regulatory inference with graph-linked embedding
ZJ Cao, G Gao - Nature Biotechnology, 2022 - nature.com
Despite the emergence of experimental methods for simultaneous measurement of multiple
omics modalities in single cells, most single-cell datasets include only one modality. A major …
omics modalities in single cells, most single-cell datasets include only one modality. A major …
[HTML][HTML] A draft human pangenome reference
Abstract Here the Human Pangenome Reference Consortium presents a first draft of the
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …
Evolutionary constraint and innovation across hundreds of placental mammals
Zoonomia is the largest comparative genomics resource for mammals produced to date. By
aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect …
aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect …
Tissue-resident memory CD8+ T cells possess unique transcriptional, epigenetic and functional adaptations to different tissue environments
Tissue-resident memory T cells (TRM cells) provide protective immunity, but the
contributions of specific tissue environments to TRM cell differentiation and homeostasis are …
contributions of specific tissue environments to TRM cell differentiation and homeostasis are …
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …
been widely used to investigate protein-coding genes underlying human disorders, but …
[HTML][HTML] Systematic discovery of recombinases for efficient integration of large DNA sequences into the human genome
Large serine recombinases (LSRs) are DNA integrases that facilitate the site-specific
integration of mobile genetic elements into bacterial genomes. Only a few LSRs, such as …
integration of mobile genetic elements into bacterial genomes. Only a few LSRs, such as …
Pangenomics enables genotyping of known structural variants in 5202 diverse genomes
INTRODUCTION Modern genomics depends on inexpensive short-read sequencing.
Sequenced reads up to a few hundred base pairs in length are computationally mapped to …
Sequenced reads up to a few hundred base pairs in length are computationally mapped to …