The embryonic genome allowed us to perform a genomewide diagnosis of mendelian disorders
, including 83 common mendelian disorders
in the clinic involving 384 genes (Fig.
Among Mendelian disorders
, four types are recognizable: autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive.
Screening for carriers of Mendelian disorders
has traditionally focused on a limited number of diseases, as determined by the parents' ethnicity and race.
Chromosomal microarrays currently in development are more accurate than karyotypes, and should soon be able to detect many common Mendelian disorders
She describes changes and repair at the molecular DNA level, Mendelian inheritance, molecular explanations for unexpected phenotypes in Mendelian disorders
, cancer genetics, developmental genetics, the role of genetics in complex diseases, gene therapy, and the new field of individualized medicine instigated by genetics.
Many Mendelian disorders
such as cystic fibrosis are caused by mutations in a single gene, whereas other inherited disorders, such as X-Linked Intellectual Disability (XLID), can have a significant number of underlying causative genes.
In rare cases, the source of the genetic contribution to the effects of smoking is clear--single-gene Mendelian disorders
such as [alpha.sub.1]-antitrypsin deficiency show a very strong gene-environment interaction.
Gene pooling has given rise to increased susceptibility to certain rare Mendelian disorders
among such groups as the Amish, the Ashkenazi Jews, the French Canadians, and the Afrikaners.
Some of the early success stories with our technology include the first demonstration that WGS in a nuclear family could determine the genetic underpinnings of mendelian disorders
(2) and furthering the understanding of what causes cancer (3, 4).
Another 43% have been for structural abnormalities, particularly of the central nervous system, and 4% were for mendelian disorders
. The remaining 3% were for other indications such as severe oligohydramnios.
These tests, which are performed in CLIA-certified laboratories, are mainly for mendelian disorders
with well-established causal relationships between genes and diseases.