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 …
A copy number variation map of the human genome
A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
Improved pea reference genome and pan-genome highlight genomic features and evolutionary characteristics
Complete and accurate reference genomes and annotations provide fundamental resources
for functional genomics and crop breeding. Here we report a de novo assembly and …
for functional genomics and crop breeding. Here we report a de novo assembly and …
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
DT Miller, MP Adam, S Aradhya, LG Biesecker… - The American Journal of …, 2010 - cell.com
Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with
unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders …
unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders …
Global variation in copy number in the human genome
Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be
fully ascertained. We have constructed a first-generation CNV map of the human genome …
fully ascertained. We have constructed a first-generation CNV map of the human genome …
Relative impact of nucleotide and copy number variation on gene expression phenotypes
Extensive studies are currently being performed to associate disease susceptibility with one
form of genetic variation, namely, single-nucleotide polymorphisms (SNPs). In recent years …
form of genetic variation, namely, single-nucleotide polymorphisms (SNPs). In recent years …
The diploid genome sequence of an individual human
Presented here is a genome sequence of an individual human. It was produced from∼ 32
million random DNA fragments, sequenced by Sanger dideoxy technology and assembled …
million random DNA fragments, sequenced by Sanger dideoxy technology and assembled …
How to interpret a genome-wide association study
TA Pearson, TA Manolio - Jama, 2008 - jamanetwork.com
Genome-wide association (GWA) studies use high-throughput genotyping technologies to
assay hundreds of thousands of single-nucleotide polymorphisms (SNPs) and relate them to …
assay hundreds of thousands of single-nucleotide polymorphisms (SNPs) and relate them to …
Sensitive and accurate detection of copy number variants using read depth of coverage
Methods for the direct detection of copy number variation (CNV) genome-wide have become
effective instruments for identifying genetic risk factors for disease. The application of next …
effective instruments for identifying genetic risk factors for disease. The application of next …
Copy number variation: new insights in genome diversity
DNA copy number variation has long been associated with specific chromosomal
rearrangements and genomic disorders, but its ubiquity in mammalian genomes was not …
rearrangements and genomic disorders, but its ubiquity in mammalian genomes was not …