Structural variation in the sequencing era
Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …
historically difficult due to limitations inherent to available genome technologies. Detection …
Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics
Clinical genetics has an important role in the healthcare system to provide a definitive
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …
[HTML][HTML] Pan-genome of wild and cultivated soybeans
Y Liu, H Du, P Li, Y Shen, H Peng, S Liu, GA Zhou… - Cell, 2020 - cell.com
Soybean is one of the most important vegetable oil and protein feed crops. To capture the
entire genomic diversity, it is needed to construct a complete high-quality pan-genome from …
entire genomic diversity, it is needed to construct a complete high-quality pan-genome from …
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 …
The Database of Genomic Variants: a curated collection of structural variation in the human genome
Over the past decade, the Database of Genomic Variants (DGV; http://dgv. tcag. ca/) has
provided a publicly accessible, comprehensive curated catalogue of structural variation (SV) …
provided a publicly accessible, comprehensive curated catalogue of structural variation (SV) …
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
Abstract The Tohoku Medical Megabank Organization reports the whole-genome
sequences of 1,070 healthy Japanese individuals and construction of a Japanese …
sequences of 1,070 healthy Japanese individuals and construction of a Japanese …
Finding the missing heritability of complex diseases
TA Manolio, FS Collins, NJ Cox, DB Goldstein… - Nature, 2009 - nature.com
Genome-wide association studies have identified hundreds of genetic variants associated
with complex human diseases and traits, and have provided valuable insights into their …
with complex human diseases and traits, and have provided valuable insights into their …
Pan-genome analysis of 13 Malus accessions reveals structural and sequence variations associated with fruit traits
T Wang, S Duan, C Xu, Y Wang, X Zhang, X Xu… - Nature …, 2023 - nature.com
Structural variations (SVs) and copy number variations (CNVs) contribute to trait variations in
fleshy-fruited species. Here, we assemble 10 genomes of genetically diverse Malus …
fleshy-fruited species. Here, we assemble 10 genomes of genetically diverse Malus …
Genome-wide association studies for complex traits: consensus, uncertainty and challenges
The past year has witnessed substantial advances in understanding the genetic basis of
many common phenotypes of biomedical importance. These advances have been the result …
many common phenotypes of biomedical importance. These advances have been the result …
Assembly of a pangenome for global cattle reveals missing sequences and novel structural variations, providing new insights into their diversity and evolutionary …
Y Zhou, L Yang, X Han, J Han, Y Hu, F Li… - Genome …, 2022 - genome.cshlp.org
A cattle pangenome representation was created based on the genome sequences of 898
cattle representing 57 breeds. The pangenome identified 83 Mb of sequence not found in …
cattle representing 57 breeds. The pangenome identified 83 Mb of sequence not found in …