[Structural variation in the human genome].

By Yong-shu He, Wen Zhang, Zhao-Qing Yang. Yi chuan = Hereditas, 2009

1,453 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/218aed10cd9dedecd789d8251f40fa446a4ab629

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Citations in the corpus

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project (2007, background): “We also examined structural variation (that is, CNVs, inversions and translocations 114 ; see Supplementary Information section 5.2.2).”
Epigenetics as a unifying principle in the aetiology of complex traits and diseases (2010, background): “Only recently was it determined that the difference in DNA sequence among unrelated individuals is very low (”
The Diploid Genome Sequence of an Individual Human (2007, background): “sequences (indels) or large-scale structural variants [10–15]”
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. (2007, background): “Structural variation of the human genome can be associated with disease traits or represent benign copy-number variation (CNV) (Lee and Lupski, 2006; Lupski, 2007).”
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. (2009, background): “In addition to their direct correlation with genetic disorders, CNVs are known to mediate phenotypic changes that can be deleterious (Feuk et al. 2006; Freeman et al. 2006).”
Distinguishing protein-coding and noncoding genes in the human genome (2007, background): “…multiple categories including retrotrans- posons, segmental duplications, and paralogs; (2) process varia- tion including copy number variation (CNV) (Feuk et al. 2006) and microsatellites; (3) distinguish functional genes and alleles from pseudogenes; (4) define alternate splice products; and…”
The Database of Genomic Variants: a curated collection of structural variation in the human genome (2013, background): “DNA variations that are balanced in nature, such as inversions and translocations, are less common in the human genome, but can also be important in chromosomal evolution and disease (3).”
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data (2007, background): “Following the completion of the human genome sequence, the emphasis has shifted towards the characterization of human genetic variation and in the last few years, thanks to novel technologies, more and more structural variation events in the genome have been identified (for review see (41)).”
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes. (2009, background): “These methods must (1) process repetitive sequences in multiple categories including retrotrans-posons, segmental duplications, and paralogs; (2) process variation including copy number variation (CNV) (Feuk et al. 2006) and microsatellites; (3) distinguish functional genes and alleles from pseudoge”
Hybrid error correction and de novo assembly of single-molecule sequencing reads (2012, background): “This is especially significant for understanding the genetic variations of cancer genomes and other human diseases such as autism that frequently contain gene fusions, copy number variations and other large-scale structural variations 46,47 .”
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes (2016, neutral): “Pancreas (542) Liver (1,313) Duodenum (1,655) Small intestine (1,718) Kidney (1,773) Colon (1,833) Stomach (1,617) Salivary gland (1,183) Prostate (1,684) Testis (2,550) Skin (1,497) Esophagus (1,920) Gall bladder (2,046) Heart (1,545) Thyroid gland (1,954) Urinary bladder (2,171) Adipose tissue (1,”
The UCSC Genome Browser database: update 2010 (2009, background): “The Ensembl Genes (6) track, available on 25 different organisms, and the Database of Genomic Variants (DGV) track (20,21), which contains genomic variations observed in healthy human individuals, are updated whenever a new version is released.”
Genome structural variation discovery and genotyping (2011, background): “Structural variation was originally defined as insertions, deletions and inversions greater than 1 kb in siz”
Systems medicine: the future of medical genomics and healthcare (2009, background): “Further progress is expected now that the important role of other forms of genomic polymorphisms between individuals, including monozygotic twins, has been recognized; these include the effects of copy number variations and epigenetic modifications [168-170].”
A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation (2009, background): “We suggest that MMBIR might underlie genomic rearrangements and CNV associated with the emergence of primate-specific traits [10,13,101].”
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. (2007, background): “…studies have reported the presence of copy number variation in humans, suggesting that CNVs may account for a significant proportion of human phenotypic variation, including disease susceptibility (Feuk et al. 2006; Freeman et al. 2006; Eichler et al. 2007; McCarroll and Altshuler 2007).”