Chromosome-scale mega-haplotypes enable digital karyotyping of cancer aneuploidy
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منابع مشابه
Chromosome-scale mega-haplotypes enable digital karyotyping of cancer aneuploidy
Genomic instability is a frequently occurring feature of cancer that involves large-scale structural alterations. These somatic changes in chromosome structure include duplication of entire chromosome arms and aneuploidy where chromosomes are duplicated beyond normal diploid content. However, the accurate determination of aneuploidy events in cancer genomes is a challenge. Recent advances in se...
متن کاملRapid Aneuploidy Testing, Traditional Karyotyping, or Both, in Prenatal Diagnosis
HKJGOM 2005; 5 (1) 33 Introduction The most frequent foetal chromosomal abnormalities involve the autosomes 21, 18, 13 and sex chromosomes X and Y. Aneuploidy or alterations in copy number of these chromosomes, including Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), Trisomy 13 (Patau syndrome), 45,X (Turner syndrome), 47,XXY (Klinefelter syndrome) and Triploidy (presence of 3 copie...
متن کاملLimitations of chromosome classification by multicolor karyotyping.
Multicolor karyotyping technologies, such as spectral karyotyping (SKY) (Schröck et al.1996; Liyanage et al. 1996) and multiplex (M-) FISH (Speicher et al. 1996), have proved to be extremely useful in prenatal, postnatal, and cancer cytogenetics. However, these technologies have inherent limitations that, in certain situations, may result in chromosomal misclassification. In this report, we pre...
متن کاملY chromosome haplotypes and prostate cancer in Sweden.
PURPOSE Certain Y-chromosomal lineages have been suggested to predispose individuals to prostate cancer in the Japanese population; in other ethnic groups, however, the importance of the Y chromosome is poorly understood. EXPERIMENTAL DESIGN To assess the possible Y-chromosomal contribution to prostate cancer risk and prognosis, we analyzed five binary Y-chromosomal markers in 1,447 prostate ...
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Testicular cancer (TC) affects 1 in 500 males and is the most common malignancy among young men in western European populations; for example, in Denmark 1% of all men now develop TC. More than 97% of testes cancers are germ cell tumours. Although the aetiology of these malignancies is unknown, there is accumulating evidence of an intrauterine stage of TC development that may involve both enviro...
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 2017
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/gkx712