The origin of human chromosome 2 analyzed by comparative chromosome mapping with a DNA microlibrary [PDF]
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
core +1 more source
InPhaDel: integrative shotgun and proximity-ligation sequencing to phase deletions with single nucleotide polymorphisms. [PDF]
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
core +2 more sources
A Computational Approach to Estimating Nondisjunction Frequency in Saccharomyces cerevisiae. [PDF]
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
Multicolour interphase cytogenetics: 24 chromosome probes, 6 colours, 4 layers [PDF]
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
core +1 more source
Joint Haplotype Assembly and Genotype Calling via Sequential Monte Carlo Algorithm [PDF]
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
core +3 more sources
Analysis of chromosome positions in the interphase nucleus of Chinese hamster cells by laser-UV-microirradiation experiments [PDF]
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
Rapid generation of chromosome-specific alphoid DNA probes using the polymerase chain reaction [PDF]
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
The Mathematics of Phylogenomics [PDF]
The grand challenges in biology today are being shaped by powerful high-throughput technologies that have revealed the genomes of many organisms, global expression patterns of genes and detailed information about variation within populations.
Pachter, Lior, Sturmfels, Bernd
core +6 more sources
Joint assembly and genetic mapping of the Atlantic horseshoe crab genome reveals ancient whole genome duplication [PDF]
Horseshoe crabs are marine arthropods with a fossil record extending back approximately 450 million years. They exhibit remarkable morphological stability over their long evolutionary history, retaining a number of ancestral arthropod traits, and are ...
Brockmann, H Jane +6 more
core +2 more sources
Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis [PDF]
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

