Human Genetics

 Charcot-Marie-Tooth Project

The real promise of genomics will not be realized until individual patients enjoy improved medical outcomes due to the understanding that genome sequencing can bring to their treatment. At the BCM-HGSC we are working together with Jim Lupski and other BCM collaborators to demonstrate that this promise can be a reality with current DNA sequencing technology.

The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium is an international organization founded to facilitate genome-wide association study meta-analyses and replication opportunities among multiple large and well-phenotyped longitudinal cohort studies.

The overall goal of the 1000 Genomes Project is the generation of a nearly complete catalog of common human genetic variants (defined as having a frequency of 1% or higher).

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The Genomics and Space Medicine project ( ‘Space Omics’) at the Baylor College of Medicine Human Genome Sequencing Center (BCM-HGSC) is designed to study pre- , in-, and post-flight biological specimens using an array of omics assays, including clinical Whole Genome Sequencing (WGS), research assays (RNA-Seq, microbiome, proteomics among others), and biobanking for future use to gain insights into the impact of space travel.

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The vision of the BCM-GREGoR research program is to translate genomic discovery and functional phenotyping to precision molecular diagnosis in the clinic whilst advancing genomics and human genetics research.


The Human Genome Project (HGP) is an international effort to sequence and annotate the entire estimated 3.3 billion bases of the human genome.

The BCM Ion Channel Project is a collaboration of BCM-HGSC with a clinical research team in the BCM Department of Neurology, led by Jeff Noebels, M.D., Ph.D., to investigate genetic factors in ion channelopathy and specific epilepsy phenotypes.

Sequencing reads are compared with their respective amplicon reference sequences using a modification of SNPDetector, which employs a relaxed Het peak ratio threshold to compensate for possible heterogeneity of the tumor tissue sample. 

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The NIH Common Fund’s Somatic Mosaicism across Human Tissues (SMaHT) Network will create knowledge to accelerate research on the impact of somatic variation on human development, aging, and a variety of diseases. 

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The Trans-Omics for Precision Medicine (TOPMed) program, sponsored by the National Institutes of Health (NIH) National Heart, Lung and Blood Institute (NHLBI), is part of a broader Precision Medicine Initiative, which aims to provide disease treatments tailored to an individual’s unique genes and environment.