Super-pangenome by integrating the wild side of a species for accelerated crop improvement
The pangenome provides genomic variations in the cultivated gene pool for a given species.
However, as the crop's gene pool comprises many species, especially wild relatives with …
However, as the crop's gene pool comprises many species, especially wild relatives with …
Current status of structural variation studies in plants
Structural variations (SVs) including gene presence/absence variations and copy number
variations are a common feature of genomes in plants and, together with single nucleotide …
variations are a common feature of genomes in plants and, together with single nucleotide …
Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software
In recent years, many software packages for identifying structural variants (SVs) using whole-
genome sequencing data have been released. When published, a new method is commonly …
genome sequencing data have been released. When published, a new method is commonly …
Clonal hematopoiesis driven by chromosome 1q/MDM4 trisomy defines a canonical route toward leukemia in Fanconi anemia
M Sebert, S Gachet, T Leblanc, A Rousseau, O Bluteau… - Cell Stem Cell, 2023 - cell.com
Fanconi anemia (FA) patients experience chromosome instability, yielding hematopoietic
stem/progenitor cell (HSPC) exhaustion and predisposition to poor-prognosis myeloid …
stem/progenitor cell (HSPC) exhaustion and predisposition to poor-prognosis myeloid …
Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives
Copy number variation (CNV) is a prevalent form of critical genetic variation that leads to an
abnormal number of copies of large genomic regions in a cell. Microarray-based …
abnormal number of copies of large genomic regions in a cell. Microarray-based …
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling
Motivation: Exome sequencing has proven to be an effective tool to discover the genetic
basis of Mendelian disorders. It is well established that copy number variants (CNVs) …
basis of Mendelian disorders. It is well established that copy number variants (CNVs) …
Draft genome of the kiwifruit Actinidia chinensis
S Huang, J Ding, D Deng, W Tang, H Sun, D Liu… - Nature …, 2013 - nature.com
The kiwifruit (Actinidia chinensis) is an economically and nutritionally important fruit crop
with remarkably high vitamin C content. Here we report the draft genome sequence of a …
with remarkably high vitamin C content. Here we report the draft genome sequence of a …
An integrated pipeline for de novo assembly of microbial genomes
Remarkable advances in DNA sequencing technology have created a need for de novo
genome assembly methods tailored to work with the new sequencing data types. Many such …
genome assembly methods tailored to work with the new sequencing data types. Many such …
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
Constitutional SMARCB1 mutations at 22q11. 23 have been found in∼ 50% of familial and<
10% of sporadic schwannomatosis cases. We sequenced highly conserved regions along …
10% of sporadic schwannomatosis cases. We sequenced highly conserved regions along …
Identifying structural variation in haploid microbial genomes from short-read resequencing data using breseq
JE Barrick, G Colburn, DE Deatherage, CC Traverse… - BMC genomics, 2014 - Springer
Background Mutations that alter chromosomal structure play critical roles in evolution and
disease, including in the origin of new lifestyles and pathogenic traits in microbes. Large …
disease, including in the origin of new lifestyles and pathogenic traits in microbes. Large …