Search Results - "They Remain"

Genomic disorders mechanisms for copy number variation (CNV) and clinical implementation of high-resolution genome analysis /

Table of Contents: “…Contents: Rearrangements of the human genome as a significant source for genetic variation -- Genomic disorders -- Inherited and sporadic traits -- Rearrangements associated with genomic disorders can be recurrent, with breakpoint clusters resulting in a common sized deletion/duplication, or nonrecurrent and of different sizes -- Nonallelic homologous recombination (NAHR) -- Nonhomologous end-joining (NHEJ) -- Low-copy repeats (LCRs) -- Fork Stalling and Template Switching (FoSTeS) -- Rearrangements as an evolutionary function -- Gene dosage, position effects, unmasking of coding region mutations (cSNPs) and other functional SNPs -- De novo genomic rearrangements have been shown to cause both chromosomal and Mendelian disease, as well as sporadic traits -- Understanding of the extent to which genomic rearrangements, gene CNV, and/or gene dosage alterations are responsible for common and complex traits remains rudimentary.…”
Get full text
Series

Genomic disorders mechanisms for copy number variation (CNV) and clinical implementation of high-resolution genome analysis /

Table of Contents: “…Contents: Rearrangements of the human genome as a significant source for genetic variation -- Genomic disorders -- Inherited and sporadic traits -- Rearrangements associated with genomic disorders can be recurrent, with breakpoint clusters resulting in a common sized deletion/duplication, or nonrecurrent and of different sizes -- Nonallelic homologous recombination (NAHR) -- Nonhomologous end-joining (NHEJ) -- Low-copy repeats (LCRs) -- Fork Stalling and Template Switching (FoSTeS) -- Rearrangements as an evolutionary function -- Gene dosage, position effects, unmasking of coding region mutations (cSNPs) and other functional SNPs -- De novo genomic rearrangements have been shown to cause both chromosomal and Mendelian disease, as well as sporadic traits -- Understanding of the extent to which genomic rearrangements, gene CNV, and/or gene dosage alterations are responsible for common and complex traits remains rudimentary.…”
Get full text
Series

Genomic disorders mechanisms for copy number variation (CNV) and clinical implementation of high-resolution genome analysis /

Table of Contents: “…Contents: Rearrangements of the human genome as a significant source for genetic variation -- Genomic disorders -- Inherited and sporadic traits -- Rearrangements associated with genomic disorders can be recurrent, with breakpoint clusters resulting in a common sized deletion/duplication, or nonrecurrent and of different sizes -- Nonallelic homologous recombination (NAHR) -- Nonhomologous end-joining (NHEJ) -- Low-copy repeats (LCRs) -- Fork Stalling and Template Switching (FoSTeS) -- Rearrangements as an evolutionary function -- Gene dosage, position effects, unmasking of coding region mutations (cSNPs) and other functional SNPs -- De novo genomic rearrangements have been shown to cause both chromosomal and Mendelian disease, as well as sporadic traits -- Understanding of the extent to which genomic rearrangements, gene CNV, and/or gene dosage alterations are responsible for common and complex traits remains rudimentary.…”
Get full text
Series