Unravelling inversions: Technological advances, challenges, and potential impact on crop breeding
Inversions, a type of chromosomal structural variation, significantly influence plant
adaptation and gene functions by impacting gene expression and recombination rates …
adaptation and gene functions by impacting gene expression and recombination rates …
[HTML][HTML] A 25-year odyssey of genomic technology advances and structural variant discovery
D Porubsky, EE Eichler - Cell, 2024 - cell.com
This perspective focuses on advances in genome technology over the last 25 years and
their impact on germline variant discovery within the field of human genetics. The field has …
their impact on germline variant discovery within the field of human genetics. The field has …
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 …
Recombination between heterologous human acrocentric chromosomes
The short arms of the human acrocentric chromosomes 13, 14, 15, 21 and 22 (SAACs) share
large homologous regions, including ribosomal DNA repeats and extended segmental …
large homologous regions, including ribosomal DNA repeats and extended segmental …
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation
JA Gustafson, SB Gibson, N Damaraju… - Genome …, 2024 - genome.cshlp.org
Fewer than half of individuals with a suspected Mendelian or monogenic condition receive a
precise molecular diagnosis after comprehensive clinical genetic testing. Improvements in …
precise molecular diagnosis after comprehensive clinical genetic testing. Improvements in …
Exploring gene content with pangene graphs
Motivation The gene content regulates the biology of an organism. It varies between species
and between individuals of the same species. Although tools have been developed to …
and between individuals of the same species. Although tools have been developed to …
Recurrent evolution and selection shape structural diversity at the amylase locus
The adoption of agriculture triggered a rapid shift towards starch-rich diets in human
populations. Amylase genes facilitate starch digestion, and increased amylase copy number …
populations. Amylase genes facilitate starch digestion, and increased amylase copy number …
A super-pangenome of the North American wild grape species
Background Capturing the genetic diversity of wild relatives is crucial for improving crops
because wild species are valuable sources of agronomic traits that are essential to enhance …
because wild species are valuable sources of agronomic traits that are essential to enhance …
Comparing methods for constructing and representing human pangenome graphs
Background As a single reference genome cannot possibly represent all the variation
present across human individuals, pangenome graphs have been introduced to incorporate …
present across human individuals, pangenome graphs have been introduced to incorporate …
Grapevine pangenome facilitates trait genetics and genomic breeding
Z Liu, N Wang, Y Su, Q Long, Y Peng, L Shangguan… - Nature Genetics, 2024 - nature.com
Grapevine breeding is hindered by a limited understanding of the genetic basis of complex
agronomic traits. This study constructs a graph-based pangenome reference (Grapepan v …
agronomic traits. This study constructs a graph-based pangenome reference (Grapepan v …