Results 251 to 260 of about 864,768 (299)

Benchmarking long-read structural variant calling tools and combinations for detecting somatic variants in cancer genomes. [PDF]

Sci Rep
Aydin SK, Yilmaz KC, Acar A.
europepmc   +1 more source

Structural variant and nucleosome occupancy dynamics postchemotherapy in a HER2+ breast cancer organoid model. [PDF]

Proc Natl Acad Sci U S A
Starostecka M, Jeong H, Hasenfeld P, Benito-Garagorri E, Christiansen T, Stober Brasseur C, Gomes Queiroz M, Garcia Montero M, Jechlinger M, Korbel JO.   +9 more
europepmc   +1 more source

CYTO-SV-ML: A Machine Learning Tool for Cytogenetic Structural Variant Analysis in Somatic Cell Type Using Genome Sequences. [PDF]

Life (Basel)
Zhang T, Auer P, Spellman SR, Dong J, Saber W, Bolon YT.   +5 more
europepmc   +1 more source

Tumor break load quantitates structural variant-associated genomic instability with biological and clinical relevance across cancers. [PDF]

NPJ Precis Oncol
Lakbir S, de Wit R, de Bruijn I, Kundra R, Madupuri R, Gao J, Schultz N, Meijer GA, Heringa J, Fijneman RJA, Abeln S.   +10 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
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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
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Strategy for Structural Characterization of Haemoglobin Variants

Acta Haematologica, 1987
High-performance liquid chromatography allows one to perform effective and rapid separations on microquantities of material. The miniaturization of the techniques led to new approaches involving isoelectric focusing (IEF) of immobilized pH gradient IEF for haemoglobin preparation, successive enzymic hydrolyses for isolating abnormal peptides and amino ...
V, Baudin-Chich, J, Rochette, H, Wajcman
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Dysfunctional Variants and the Structural Biology of the Serpins

1997
The development of our knowledge of the serpins illustrates the advantages of considering a protein superfamily as a whole. The serpins have all retained a common tertiary structure despite the individual evolution of diverse functions; for example, the homology of the plasma protease inhibitor α1-antitrypsin is closer to that of corticosteroid binding
R, Carrell, D, Lomas, P, Stein, J, Whisstock   +3 more
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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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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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