Journal Article10.1002/(SICI)1098-2272(1999)16:4<337::AID-GEPI1>3.0.CO;2-T
Method for constructing confidently ordered linkage maps.
Karl W. Broman,James L. Weber +1 more
TL;DR: A method for identifying, from a comprehensive genetic map, the most dense framework of confidently ordered markers, and finds the largest subset of markers for which adjacent loci are separated by at least one recombination.
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Abstract: We describe a method for identifying, from a comprehensive genetic map, the most dense framework of confidently ordered markers. The approach uses the number of observed recombination events between each pair of markers, and finds the largest subset of markers for which adjacent loci are separated by at least one recombination. We illustrate the approach using a short region of chromosome 7p.
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Citations
Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5
Erik G. Puffenberger,Kevin A. Strauss,Keri E. Ramsey,David Craig,Dietrich A. Stephan,Donna L. Robinson,Christine Hendrickson,Steven Gottlieb,David A. Ramsay,Victoria Mok Siu,Gregory G. Heuer,Peter B. Crino,D. Holmes Morton +12 more
TL;DR: Investigation of single nucleotide polymorphism microarrays found abundant anti-phospho-ribosomal S6 labelling of large cells within the frontal cortex, basal ganglia, hippocampus and spinal cord, consistent with constitutive activation of the mammalian target of rapamycin (mTOR) signalling pathway in brain.
116
Dental arch asymmetry in an isolated Adriatic community.
Katrin Schaefer,Tomislav Lauc,Philipp Mitteroecker,Philipp Gunz,Fred L. Bookstein,Fred L. Bookstein +5 more
TL;DR: The results suggest an environmental as well as a genetic influence on dental arch asymmetry, which was found to be higher on the island than in Zagreb in all groups and in both jaws, and increased significantly with endogamy level in the lower jaw.
98
Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13
Derek E. Neilson,Heidi S. Feiler,Kirk C. Wilhelmsen,Audrey Lynn,Robert M. Eiben,Douglas S. Kerr,Matthew L. Warman +6 more
TL;DR: Sequencing of four candidate genes in the interval, involved in apoptosis, viral recognition, choline transport, and electron transport, showed no disease causing mutations.
31
Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome.
TL;DR: No evidence for allele sharing at any locus tested or mutations in candidate genes was found and additional higher resolution mapping, new families and other candidate genes might improve future chances of gene identification.
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Locus ordering based on crossover information in family haplotypes: application of a "minimum break" algorithm.
TL;DR: It is shown that, for average locus spacing and a set of 300 to 600 haplotypes, locus ordering can be reliably determined for sets of at least 50 loci, and the method presented can be used to obtain reasonable sets of ordered loci that can then be used by other methods to refine the statistical confidence of the locus order.
References
A general method applicable to the search for similarities in the amino acid sequence of two proteins
TL;DR: A computer adaptable method for finding similarities in the amino acid sequences of two proteins has been developed and it is possible to determine whether significant homology exists between the proteins to trace their possible evolutionary development.
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Comprehensive human genetic maps: individual and sex-specific variation in recombination.
TL;DR: Comprehensive human genetic maps were constructed on the basis of nearly 1 million genotypes from eight CEPH families and incorporated >8,000 short tandem-repeat polymorphisms (STRPs), primarily from Généthon, the Cooperative Human Linkage Center, the Utah Marker Development Group, and the Marshfield Medical Research Foundation.
A 2D crossover–based map of the human X chromosome as a model for map integration
Pamela R. Fain,Edward N. Kort,Phillip F. Chance,K. Nguyen,Doug Redd,Michael J. Econs,David F. Barker +6 more
TL;DR: This first high–density crossover–based map of an entire human chromosome provides a model for integrating physical and genetic maps and produces maps with greater reliability and higher resolution than maps constructed using currently accepted standards.
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A high resolution CEPH crossover mapping panel and integrated map of chromosome 11.
TL;DR: The 2D maps provide the resolution and flexibility needed to enhance current applications such as positional cloning and mapping complex disorders; while the mapping panels will greatly improve the resolution, reliability and efficiency of future genetic mapping.
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