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Genetics and Genomics Research | Overview


The Division of Genetics and Genomics brings together more than two dozen research labs dedicated to uncovering the underlying causes of inherited disorders. We work closely with the Clinical Genetics Program and the Manton Center for Orphan Disease Research to conduct studies and bring our findings back to our patients.

Our capabilities include:

  • whole-genome and whole-exome sequencing
  • high-coverage sequencing
  • RNA sequencing
  • genome-wide association studies (GWAS)
  • chromosomal microarray analysis
  • gene expression studies

Our innovation projects are bringing many of these technologies directly into clinical care, returning results to families and establishing best practices for genomic medicine.

The diverse patient populations at Boston Children’s, our bioinformatics expertise, tissue banks, stem cell models and animal models all contribute to a fast pace of discovery. We welcome collaborations with industry on clinical and preclinical investigations.

BabySeq:  DNA sequencing in newborns

Parents at Boston Children's Hospital and Brigham and Women's Hospital are taking part in a new study. Read more in the Boston Globe.

Deep sequencing finds hidden causes of brain disorders
New methods can find "mosaic" mutations striking as few as 1 in 10 cells in a sample.