Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
The transferability and clinical value of genetic risk scores (GRSs) across populations
remain limited due to an imbalance in genetic studies across ancestrally diverse …
remain limited due to an imbalance in genetic studies across ancestrally diverse …
Big data and deep learning for RNA biology
H Hwang, H Jeon, N Yeo, D Baek - Experimental & Molecular Medicine, 2024 - nature.com
The exponential growth of big data in RNA biology (RB) has led to the development of deep
learning (DL) models that have driven crucial discoveries. As constantly evidenced by DL …
learning (DL) models that have driven crucial discoveries. As constantly evidenced by DL …
Comprehensive genome analysis and variant detection at scale using DRAGEN
Research and medical genomics require comprehensive, scalable methods for the
discovery of novel disease targets, evolutionary drivers and genetic markers with clinical …
discovery of novel disease targets, evolutionary drivers and genetic markers with clinical …
Single-nucleotide variant calling in single-cell sequencing data with Monopogen
Single-cell omics technologies enable molecular characterization of diverse cell types and
states, but how the resulting transcriptional and epigenetic profiles depend on the cell's …
states, but how the resulting transcriptional and epigenetic profiles depend on the cell's …
Unified views on variant impact across many diseases
S Kumar, M Gerstein - Trends in Genetics, 2023 - cell.com
Genomic studies of human disorders are often performed by distinct research communities
(ie, focused on rare diseases, common diseases, or cancer). Despite underlying differences …
(ie, focused on rare diseases, common diseases, or cancer). Despite underlying differences …
Dissection of a CTCF topological boundary uncovers principles of enhancer-oncogene regulation
Enhancer-gene communication is dependent on topologically associating domains (TADs)
and boundaries enforced by the CCCTC-binding factor (CTCF) insulator, but the underlying …
and boundaries enforced by the CCCTC-binding factor (CTCF) insulator, but the underlying …
Variability of cross-tissue X-chromosome inactivation characterizes timing of human embryonic lineage specification events
X-chromosome inactivation (XCI) is a random, permanent, and developmentally early
epigenetic event that occurs during mammalian embryogenesis. We harness these features …
epigenetic event that occurs during mammalian embryogenesis. We harness these features …
Small polymorphisms are a source of ancestral bias in structural variant breakpoint placement
High-quality genome assemblies and sophisticated algorithms have increased sensitivity for
a wide range of variant types, and breakpoint accuracy for structural variants (SVs,≥ 50 bp) …
a wide range of variant types, and breakpoint accuracy for structural variants (SVs,≥ 50 bp) …
Getting personal with epigenetics: towards individual-specific epigenomic imputation with machine learning
Epigenetic modifications are dynamic mechanisms involved in the regulation of gene
expression. Unlike the DNA sequence, epigenetic patterns vary not only between …
expression. Unlike the DNA sequence, epigenetic patterns vary not only between …
An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes
The human genome is packaged within a three-dimensional (3D) nucleus and organized
into structural units known as compartments, topologically associating domains (TADs), and …
into structural units known as compartments, topologically associating domains (TADs), and …