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How NGS and big data are used to tackle genetic disorders


Editorial Article: How NGS and big data can be instrumental in tackling genetic disorders
Expert at the Yale Center for Genome Analysis reveal the tools they use to study inherited conditions and their potential treatments
03 Mar 2021
Dr. Shrikant Pawar, YCGA
Mendelian disorders – such as cystic fibrosis and sickle cell anemia – are genetic disorders that primarily result from a mutation at a single genetic locus. This type of single-gene disorder is rare, but often causes a significant burden on patient health and quality of life. 
Dr. Shrikant Pawar, an associate research scientist at the Yale Center for Genome Analysis (YCGA), is a computational biologist whose experience with big data and machine learning analysis makes him distinctly qualified to analyze the large volume of sequencing data required for the study of genetic disorders.  ....

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