Frontiers in Genetics, 2022 Background: Structural variations (SVs) are various types of the genomic rearrangements encompassing at least 50 nucleotides. These include unbalanced gains or losses of DNA segments (copy number changes, CNVs), balanced rearrangements (such as inversion
Ye Cao +18 more
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The origin of human chromosome 2 analyzed by comparative chromosome mapping with a DNA microlibrary [PDF]
, 1994 Fluorescencein situ hybridization (FISH) of microlibraries established from distinct chromosome subregions can test the evolutionary conservation of chromosome bands as well as chromosomal rearrangements that occurred during primate evolution and will ...
A Baldini +32 more
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InPhaDel: integrative shotgun and proximity-ligation sequencing to phase deletions with single nucleotide polymorphisms. [PDF]
, 2016 Phasing of single nucleotide (SNV), and structural variations into chromosome-wide haplotypes in humans has been challenging, and required either trio sequencing or restricting phasing to population-based haplotypes.
Bafna, Vineet +4 more
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Multicolour interphase cytogenetics: 24 chromosome probes, 6 colours, 4 layers [PDF]
, 2011 From the late 1980s onwards, the use of DNA probes to visualise sequences on individual chromosomes (fluorescent in-situ hybridisation - FISH) revolutionised the study of cytogenetics.
A.R. Thornhill +61 more
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A Computational Approach to Estimating Nondisjunction Frequency in Saccharomyces cerevisiae. [PDF]
, 2016 Errors segregating homologous chromosomes during meiosis result in aneuploid gametes and are the largest contributing factor to birth defects and spontaneous abortions in humans.
Burgess, Sean M, Chu, Daniel B
core +3 more sources
Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis [PDF]
, 2014 Oesophageal adenocarcinoma (EAC) incidence is rapidly increasing in Western countries. A better understanding of EAC underpins efforts to improve early detection and treatment outcomes.
Anderson, M +43 more
core +4 more sources
Analysis of chromosome positions in the interphase nucleus of Chinese hamster cells by laser-UV-microirradiation experiments [PDF]
, 1982 Unsynchronized cells of an essentially diploid strain of female Chinese hamster cells derived from lung tissue (CHL) were laser-UV-microirradiated (=257 nm) in the nucleus either at its central part or at its periphery.
B Dutrillaux +38 more
core +1 more source
Joint Haplotype Assembly and Genotype Calling via Sequential Monte Carlo Algorithm [PDF]
, 2015 Genetic variations predispose individuals to hereditary diseases, play important role in the development of complex diseases, and impact drug metabolism. The full information about the DNA variations in the genome of an individual is given by haplotypes,
Ahn, Soyeon, Vikalo, Haris
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A comparative of G-banded chromosome of Assam Macaque (Macaca assamensis) and relationship to human (Homo sapiens) [PDF]
Songklanakarin Journal of Science and Technology (SJST), 2006 This research was the first to report a comparative analysis of G-banded chromosome of Assam macaque, Macaca assamensis (Primate, Cercopithecidae) and relationship to human, Homo sapiens (Primate, Hominidae).
Bunjongrat, R. +3 more
doaj
Rapid generation of chromosome-specific alphoid DNA probes using the polymerase chain reaction [PDF]
, 1992 Non-isotopic in situ hybridization of chromosome-specific alphoid DNA probes has become a potent tool in the study of numerical aberrations of specific human chromosomes at all stages of the cell cycle. In this paper, we describe approaches for the rapid
A Gnirke +33 more
core +1 more source