Results 211 to 220 of about 374,677 (247)

Single Nucleotide Polymorphisms, Structural Variants, and Short Tandem Repeats Capture Distinct Signals of Adaptive Divergence in the Atlantic Puffin. [PDF]

Genome Biol Evol
Kersten O, Star B, Anker-Nilssen T, Strøm H, Jakobsen KS, Boessenkool S.   +5 more
europepmc   +1 more source

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease. [PDF]

Genome Res
Jensen TD, Ni B, Reuter CM, Gorzynski JE, Fazal S, Bonner D, Ungar RA, Goddard PC, Raja A, Ashley EA, Bernstein JA, Zuchner S, Undiagnosed Diseases Network, Greicius MD, Montgomery SB, Schatz MC, Wheeler MT, Battle A.   +17 more
europepmc   +1 more source

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AR Structural Variants and Prostate Cancer

2022
Therapeutic interventions for advanced castration-resistant prostate cancer (CRPC) are focused on inhibiting the androgen receptor (AR) through targeting of its C-terminal ligand binding domain (LBD). However, a significant subset of CRPC patients demonstrate primary resistance to androgen deprivation and anti-androgen therapies, suggesting that other ...
Laura, Cato, Maysoun, Shomali
openaire   +2 more sources

Rare Structural Variants

2015
In this chapter, we will briefly touch on the historical discoveries of large abnormalities in the structure of the human genome. It is now clear that more subtle structural variants are in fact ubiquitous and key to understanding the spectrum of risk for many human diseases.
Menachem Fromer, Shaun Purcell
openaire   +1 more source

Origin of bovine IgM structural variants

Molecular Immunology, 2001
The structure of IgM determined from two cDNAs isolated from a Holstein (BLV7G1) and an Angus x Hereford cross-bred (B5D8) cow reveals high sequence similarity both at nucleotide (98.7%) and amino acid (97.9%) level and is closest to sheep (89.4%).
S S, Saini, A, Kaushik
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Structural Variant Breakpoint Detection with novoBreak

2018
Structural variations (SVs) are an important type of genomic variants and always play a critical role for cancer development and progression. In the cancer genomics era, detecting structural variations from short sequencing data is still challenging. We developed a novel algorithm, novoBreak (Chong et al. Nat Methods 14:65-67, 2017), which achieved the
Zechen, Chong, Ken, Chen
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Karyotype Variants A: Chromosome Structural Variants

1992
A deficiency is the absence of a chromosome segment (of any size) that is present in the normal karyotype. An alternative term is deletion, which by some authors is used preferentially for the for the deficiency of a terminal segment of a chromosome.
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Structural Variants of Hyperbranched Polyesters

Macromolecules, 1996
Hyperbranched polyesters based on 3,5-dihydroxybenzoic acid and its derivatives were prepared by self-condensation of the corresponding ester under standard trans-esterification conditions. The spacer segment length that connects the branching points was systematically varied by starting from the appropriate ethyl 3,5-bis(omega-hydroxyoligo(ethyleneoxy)
Kumar, A, Ramakrishnan, S
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Cochlear structural variants in echolocators

The Journal of the Acoustical Society of America, 2012
Although microchiropteran bats and odontocete cetaceans operate in radically different media, both have sophisticated sonar capabilities and evident similarities in their ability to detect and analyze ultrasonic signals. This paper compares the similarities and differences of cochlear cytoarchitecture and its implications for ultrasonic encoding and ...
Darlene R. Ketten, James Simmons, Hiroshi Riquimaroux, Scott Cramer, Julie Arruda   +4 more
openaire   +1 more source