Positional cloning: Let's not call it reverse anymore

@article{Collins1992PositionalCL,
  title={Positional cloning: Let's not call it reverse anymore},
  author={Francis S Collins},
  journal={Nature Genetics},
  year={1992},
  volume={1},
  pages={3-6}
}
  • F. Collins
  • Published 1 April 1992
  • Biology, Medicine
  • Nature Genetics
Molecular genetic investigation of autosomal dominant muscular dystrophy
This thesis contributes to the Human Genome Project by adding detail to the physical and genetic maps of the human genome, and by identifying a strong candidate gene for a form of distal myopathy.
Molecular genetics of the 1q23.3 schizophrenia susceptibility locus
TLDR
Allelic and haplotypic associations with schizophrenia were found with three microsatellite and four SNP markers within the serine threonine kinase (UHMK1) gene, and further confirmation of the involvement of this gene in schizophrenia is needed.
Genetic studies on recurrent miscarriage
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This study presents a meta-analysis of the mitochondrial genome of mice as a model organism and the identification of genetic causes underlying RM, which confirmed the nature of a new genetic variation for the first time.
Molecular genetics of X-linked cone-rod dystrophy and Åland Island eye disease
TLDR
To identify the disease genes behind the cone-rod dystrophy and AIED phenotypes, and to determine the functional consequences of the mutations identifi ed, the aims of this study were to map the disease gene in a large Finnish family with X-linked cone- Rod Dystrophy, and discover a novel CACNA1F gene mutation in AIED patients.
The molecular basis of Marinesco-Sjögren syndrome
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Comparison of the power and accuracy of biallelic and microsatellite markers in population-based gene-mapping methods.
TLDR
A mathematical framework and the analytical formulas for calculation of the power and the accuracy are developed and the impact that factors, such as the age of the disease mutation, the magnitude of the genetic effect, the marker-allele distribution in the population, mutation rates of marker loci, the frequency of the Disease allele, the recombination fraction, and the methods for mapping the human disease genes are investigated.
Protocols for trapping internal and 3'-terminal exons.
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