Refining Focus- How Focused Exomes are Improving Next-Generation Sequencing Diagnostics

07.19.17

 

 

What are Multi-Gene Panels, Whole Exome Sequencing and Focused Exome Sequencing methods and how are they improving diagnostics?

Meet The Jones Family

The journey to becoming parents did not start as an easy one for my husband and I. We suffered the heartache of miscarriage and the unimaginable pain of burying our first born child. Our son, sweet 1 lb 1.4 ounce, 12 inches long, teeny, tiny little Joseph “Hamilton” Jones was born with spina bifida, hydrocephalus, and a heart defect. It tore our hearts out leaving the hospital without him, knowing our dreams and hope for the future were shattered....

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