Medical Genomics

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Across
  1. 6. presence within a cell of a uniform collection of mtDNA
  2. 7. Tendency of closely located genes to be inherited together
  3. 9. The presence of the same trait in both members of a pair of twins
  4. 12. Marker fused for genetic mapping
  5. 15. When a trait is phenotypically expressed only in homozygotes
  6. 16. Polymorphic drug metabolism gene
  7. 17. Series of cloned overlapping DNA fragments covering an entire chromosomic region
  8. 20. _______ bone disease
  9. 24. Sequence variant with a frequency in the population greater than 1%
  10. 26. Probability that a genotype manifests itself in a given phenotype
  11. 28. Type of DNA sequence variant
  12. 29. ______ number variation
  13. 30. Achondroplasia gene
  14. 31. Marker used in shotgun sequencing to aid sequence assembly
Down
  1. 1. Gain or loss of one type of chromosome
  2. 2. Klinefelter syndrome karyotype
  3. 3. Defective protein in Marfan Syndrome
  4. 4. Homozygosity for alleles identical by descent
  5. 5. Cloning vector used to sequence the human genome
  6. 8. 1000_________ Project
  7. 10. Project aiming to identify all of the functional elements in the human genome
  8. 11. NCBI’s sequence alignment tool
  9. 13. Series of alleles on a single chromosome that are in linkage and tend to be inherited together
  10. 14. _______ medicine, emerging approach for disease treatment and prevention that takes into account people’s unique characteristics
  11. 18. Parent-of-origin dependent gene expression
  12. 19. Marker used for genetic mapping
  13. 21. Presence of two or more populations of cells with different genotypes in one individual
  14. 22. The most abundant sequence variant in the human genome
  15. 23. Marker used in shotgun sequencing to aid sequence assembly
  16. 25. A measure of the likelihood of genetic linkage between loci
  17. 27. Method to analyse cell-free fetal DNA in the maternal circulataion