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Genetic Research Services

Genetics & Genomic Medicine Service

The Genetics & Genomic Medicine Service at Brigham and Women’s Hospital provides care for individuals in need of genetic risk assessment, genetic testing, genetic diagnosis, genetic counseling, or management of genetic disease. We offer exome and genome sequencing as a clinical service to patients for diagnosis and clinical management. For more information, please visit our website.

Software

The Division of Genetics has developed many useful software tools. Here are some of our more popular programs:

Polyphen

Sunyaev Lab/Bork Group

Polymorphism Phenotyping
This program may be used to predict the impact of an amino acid substitution on the structure and function of a protein using straightforward physical and comparative considerations.

PolyPhen (web-based program)

SNPtrack

Interface for mutation mapping and identifying causal mutations from whole-genome sequencing studies.

SNPtrack (web-based program)

ModuleFinder

Bulyk Lab

This program evaluates the likelihood that a given genomic region is a cisregulatory module for an input set of transcription factors according to its degree of: (1) homotypic site clustering; (2) heterotypic site clustering; and (3) evolutionary conservation across multiple genomes.

Link to ModuleFinder Software Download Page

Reference: Philippakis AA, He FS, Bulyk ML. Modulefinder: a tool for computational discovery of cis regulatory modules. Pac Symp Biocomput. 2005; 519-30.

PubMed Link

MultiFinder

Bulyk Lab

This software performs automated motif searching using four different profile-based motif finders, including AlignACE, MDscan, BioProspector and MEME. We anticipated that using all four of these motif finders might allow the user to combine the strengths of their different algorithms.

Link to MultiFinder Software Download Page

Reference: Huber BR and Bulyk ML. Meta-analysis discovery of tissue-specific DNA sequence motifs from mammalian gene expression data. BMC Bioinformatics 2006 Apr 27; 7: 229.

PubMed Link

Research Areas

  • Aging
  • Cancer
  • Genetics
  • Clinical Research and Clinical Trials
  • Comparative Genomics
  • Computational Genetics
  • Disease Oriented Research
  • Gene Discovery and Gene Mapping
  • Gene Therapy
  • Genome Science
  • Human, Medical and Population Genetics
  • Mouse Molecular Genetics
  • Organogenesis and Development
  • Redox Biology and Selenium
  • Stem Cells and Regenerative Medicine

Seminars

The Division of Genetics has four ongoing seminar series.