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Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics , cytogenetics , molecular genetics , biochemical genetics , genomics , population genetics , developmental genetics , clinical genetics , and genetic counseling .
The study of human genetic variation has evolutionary significance and medical applications. It can help scientists reconstruct and understand patterns of past human migration. In medicine, study of human genetic variation may be important because some disease-causing alleles occur more often in certain population groups.
Structural variation is an important type of human genetic variation that contributes to phenotypic diversity. [2] There are microscopic and submicroscopic structural variants which include deletions, duplications, and large copy number variants as well as insertions, inversions, and translocations. [1]
Genetic disorders can be caused by any or all known types of sequence variation. To molecularly characterize a new genetic disorder, it is necessary to establish a causal link between a particular genomic sequence variant and the clinical disease under investigation. Such studies constitute the realm of human molecular genetics.
Genetic genealogy; Genealogical DNA test; Human mitochondrial DNA haplogroups; Human Y-chromosome DNA haplogroups; Allele; Allele frequency; Electropherogram; Genetic recombination; Haplogroup; Haplotype * (haplogroup) Most recent common ancestor; Short tandem repeat (STR) Single nucleotide polymorphism (SNP) Y-STR (Y-chromosome short tandem ...
Cave paintings (such as this one from France) represent a benchmark in the evolutionary history of human cognition. Victorian naturalist Charles Darwin was the first to propose the out-of-Africa hypothesis for the peopling of the world, [39] but the story of prehistoric human migration is now understood to be much more complex thanks to twenty-first-century advances in genomic sequencing.
Autosomal dominant A 50/50 chance of inheritance. Sickle-cell disease is inherited in the autosomal recessive pattern. When both parents have sickle-cell trait (carrier), a child has a 25% chance of sickle-cell disease (red icon), 25% do not carry any sickle-cell alleles (blue icon), and 50% have the heterozygous (carrier) condition. [1]
Genetics is the study of genes, genetic variation, and heredity in organisms. [1] [2] [3] It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance ...