Email

kworley@bcm.edu

Positions

Professor

DMHG:Faculty-General/Basic
Baylor College of Medicine
Houston, TX US

Past Chair - Faculty Senate

Baylor College of Medicine
Houston, Texas United States

Vice Chair for Research Affairs - Basic and Translational

Department of Molecular and Human Genetics
Baylor College of Medicine

Addresses

BCM-Margaret M. Alkek Building for Biomedical Research (Office)

Room: BCM ABBR-R717
Houston, TX 77030
United States
Phone: (713) 798-8292
kworley@bcm.edu

Education

Postdoctoral Fellowship at Baylor College Of Medicine

08/1997 - Houston, TX United States

Bioinformatics

PhD from Baylor College Of Medicine

10/1993 - Houston, TX United States

Molecular and Human Genetics

BS from Massachusetts Institute Of Technology

06/1984 - Cambridge, MA United States

Chemical Engineering

Professional Statement

My research interests center on building, annotating, understanding and making use of genomes. I have coordinated research in large multi-institutional international research consortia, including analysis and publication of research results for the Human Genome Project, Human Microbiome Project, and comparative genomics projects for over 40 animal species. For these projects, I had a role in creating genome representations through de novo genome assembly, improving genome representation through targeted sequencing and structural variation analysis, and contributing to the understanding of genome function through analysis, annotation and computational methods. The number of sequenced human genomes has increased, and genomes representative of diverse humans have become available, but the challenge of interpreting the impact of personal variation and applying this knowledge in a way that serves individual patients and improves the practice of medicine remains an analytical frontier.

Ongoing research interests include:
All of Us: I lead data science training for researchers to leverage the data available in the All of Us Research Hub. This project is a part of the All of Us Evenings with Genetics Research Program, led by Drs. Debra Murray and Brendan Lee. The data provides opportunities for gene-disease association study replication using the extensive whole genome sequence data, with clinical records, environmental data and survey data. Trainees and faculty with computational experience can engage with the program as trainers and consultants. Early-stage investigators can apply to the mentoring program at https://www.bcm.edu/departments/molecular-and-human-genetics/engagement-and-diversity/all-of-us-evenings-with-genetics-research-program.

ClinGen (https://www.clinicalgenome.org): I coordinate the variant curation expert panel for X-linked inherited retinal diseases (https://www.clinicalgenome.org/affiliation/50086/). This project with Rui Chen, Dick Lewis and many other experts seeks to curate variants in seven X-linked genes that cause blinding eye diseases, several of which are targets for gene therapies. There are opportunities to learn and practice variant curation in support of this.
Alzheimer’s Disease Sequencing Project Consortium (ADSP): I lead the structural variant working group seeking to assess and interpret the impact of structural variants with Fritz Sedlazeck, Richard Gibbs and Anita DeStefano. I also work with Olivier Lichtarge, Ismael Al-Ramahi, Juan Botas and Joanna Jankowsky on projects to assess the functional impact of variants in the ADSP data. Read more about the consortium here: https://www.nia.nih.gov/research/dn/alzheimers-disease-sequencing-project-consortia.

Undiagnosed Diseases Network / Undiagnosed Diseases Center: For this project, I lead the sequence analysis and variant interpretation group. We utilize both traditional exome and genome sequencing as well as newer assays (RNAseq, long read sequence data, Hi-C data) to identify causal genomic variants and diagnose undiagnosed patients. Find out more about the Baylor UDC at https://www.bcm.edu/research/research-centers/undiagnosed-diseases-center.

Other strategic initiatives: I also work on strategic projects related to genomic data science at BCM including the Consultagene platform (https://consultagene.org/), researcher access to genomic data and new sequencing technology implementation.

Websites

Selected Publications

• Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K, Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J "Initial sequencing and analysis of the human genome.." Nature. 2001 Feb 15;409(6822):860-921. Pubmed PMID: 11237011
• International Human Genome Sequencing Consortium "Finishing the euchromatic sequence of the human genome." Nature. 2004;431:931-45.
• Margulies EH, Cooper GM, Asimenos G, Thomas DJ, Dewey CN, Siepel A, Birney E, Keefe D, Schwartz AS, Hou M, Taylor J, Nikolaev S, Montoya-Burgos JI, Löytynoja A, Whelan S, Pardi F, Massingham T, Brown JB, Bickel P, Holmes I, Mullikin JC, Ureta-Vidal A, Pat "Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome.." Genome Res.. 2007 Jun;17(6):760-74. Pubmed PMID: 17567995
• "Structure, function and diversity of the healthy human microbiome.." Nature. 2012 Jun 14;486(7402):207-14. Pubmed PMID: 22699609