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 …
A unified framework to analyze transposable element insertion polymorphisms using graph genomes
Transposable elements are ubiquitous mobile DNA sequences generating insertion
polymorphisms, contributing to genomic diversity. We present GraffiTE, a flexible pipeline to …
polymorphisms, contributing to genomic diversity. We present GraffiTE, a flexible pipeline to …
Investigating mobile element variations by statistical genetics
S Kojima - Human Genome Variation, 2024 - nature.com
The integration of structural variations (SVs) in statistical genetics provides an opportunity to
understand the genetic factors influencing complex human traits and disease. Recent …
understand the genetic factors influencing complex human traits and disease. Recent …
MATES: a deep learning-based model for locus-specific quantification of transposable elements in single cell
Transposable elements (TEs) are crucial for genetic diversity and gene regulation. Current
single-cell quantification methods often align multi-mapping reads to either 'best-mapped'or …
single-cell quantification methods often align multi-mapping reads to either 'best-mapped'or …
[HTML][HTML] Transposable elements are associated with the variable response to influenza infection
Influenza A virus (IAV) infections are frequent every year and result in a range of disease
severity. Here, we wanted to explore the potential contribution of transposable elements …
severity. Here, we wanted to explore the potential contribution of transposable elements …
GraffiTE: a unified framework to analyze transposable element insertion polymorphisms using genome-graphs
Transposable Elements (TEs) are abundant and mobile repetitive DNA sequences evolving
within and across their hosts' genomes. Active TEs cause insertion polymorphism and …
within and across their hosts' genomes. Active TEs cause insertion polymorphism and …
An assessment of bioinformatics tools for the detection of human endogenous retroviral insertions in short-read genome sequencing data
H Bowles, R Kabiljo, A Al Khleifat, A Jones… - Frontiers in …, 2023 - frontiersin.org
There is a growing interest in the study of human endogenous retroviruses (HERVs) given
the substantial body of evidence that implicates them in many human diseases. Although …
the substantial body of evidence that implicates them in many human diseases. Although …
Genotyping of Transposable Element Insertions Segregating in Human Populations Using Short-Read Realignments
Transposable element (TE) insertions are a major source of structural variation in the human
genome. Due to the repetitive nature and biological importance of TEs, many bioinformatic …
genome. Due to the repetitive nature and biological importance of TEs, many bioinformatic …
Expanded methylome and quantitative trait loci detection by long-read profiling of personal DNA
Structural variants (SVs) are omnipresent in human DNA, yet their genotype and methylation
status is rarely characterized due to previous limitations in genome assembly and detection …
status is rarely characterized due to previous limitations in genome assembly and detection …
Pangenomic applications in rare disease and the epigenomics of structural variation
C Groza - 2024 - search.proquest.com
Structural variants (SVs) is a class of human genetic variation that affects millions of
nucleotides between any two genomes. However, SVs were not easily accessible until long …
nucleotides between any two genomes. However, SVs were not easily accessible until long …