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The genome era has led to the opportunity to examine complex, non-Mendalian diseases using high throughput genome assays. This includes DNA array-based studies of single nucleotide polymorphisms, copy number variations and other genetic variants that are associated with diseases like schizophrenia, diabetes and hypertension. We are conducting a modified, genome-wide association study on the genetics of preterm delivery. Using a novel bioinformatic approach to identify a set of candidate genes, we are examining the pathways and genetic variants that lead to preterm birth. We have recently received support for targeting re-sequencing of candidate regents in the human genome that may identify the rare variants associated with preterm birth. We have built a comprehensive database for the genes and variants associated with preeclampsia. We are enrolling and carrying out whole exome sequencing on patients with preterm birth and severe preeclampsia. Our novel bioinformatic approach is generalizable and is also being applied to other complex phenotypes. Similar approaches have been developed for preeclampsia and other conditions.
The genome era has led to the opportunity to examine complex, non-Mendalian diseases using high throughput genome assays. This includes DNA array-based studies of single nucleotide polymorphisms, copy number variations and other genetic variants that are associated with diseases like schizophrenia, diabetes and hypertension. We are conducting a modified, genome-wide association study on the genetics of preterm delivery. Using a novel bioinformatic approach to identify a set of candidate genes, we are examining the pathways and genetic variants that lead to preterm birth. We have recently received support for targeting re-sequencing of candidate regents in the human genome that may identify the rare variants associated with preterm birth. We have built a comprehensive database for the genes and variants associated with preeclampsia. We are enrolling and carrying out whole exome sequencing on patients with preterm birth and severe preeclampsia. Our novel bioinformatic approach is generalizable and is also being applied to other complex phenotypes. Similar approaches have been developed for preeclampsia and other conditions.
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Zheping Huang,Shibin Cheng,Sukanta Jash, Jamie Fierce, Anthony Agudelo, Takanobu Higashiyama,Nazeeh Hanna,Akitoshi Nakashima,Shigeru Saito,James Padbury,Jessica Schuster,Surendra Sharma
Experimental & molecular medicineno. 5 (2024): 1206-1220
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