Skip to main content

Baylor College of Medicine
Human Genome Sequencing Center

Home
About Us
- People
- Funding
- News
- Contact Us
- Visiting HGSC
Careers
Projects
Publications
Software
- Atlas2
- ATLAS GapFill
- Atlas-Link
- Atlas Whole Genome Assembly Suite
- Bang
- bcm-ace-plots
- Cassandra
- CBT++
- CoCa
- DRAGEN
- ERIS
- ExCID Report
- Honey
- Jelly
- MegaDot
- Mercury
- Parliament2
- Princess
- SimPed
- Sniffles2
- SNP Tools
- SVCollector
- SVhound
- xAtlas
Resources

Menu

Publications

Search publications

This exact phrase

Any of the words

None of these words

Export 0 results:

Tagged
EndNote XML

Title
Type
Year

Filters: Author is Marquez-Do, Deborah A and Keyword is Exome [Clear All Filters]

No items found

Modify or remove your filters and try again.

Search form

Trending Publications

The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
Genomic data in the All of Us Research Program.
Utility of long-read sequencing for All of Us.
Biallelic variation in the choline and ethanolamine transporter underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
The CARD8 inflammasome dictates HIV/SIV pathogenesis and disease progression.
Germline structural variation globally impacts the cancer transcriptome including disease-relevant genes.
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.

Popular Publications

The house spider genome reveals an ancient whole-genome duplication during arachnid evolution.
Relationship between low-density lipoprotein subclasses and asymptomatic atherosclerosis in subjects from the Atherosclerosis Risk in Communities (ARIC) Study.
Convergent evolution of the genomes of marine mammals.
Genome-culture coevolution promotes rapid divergence of killer whale ecotypes.
Unique features of a global human ectoparasite identified through sequencing of the bed bug genome.
Genomic sequencing of key genes in mouse pancreatic cancer cells.
The sheep genome illuminates biology of the rumen and lipid metabolism.
The DNA sequence, annotation and analysis of human chromosome 3.

COVID-19 Research

Longitudinal host transcriptional responses to SARS-CoV-2 infection in adults with extremely high viral load.
Mental health trends among medical students.
Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus.
Rescuing low frequency variants within intra-host viral populations directly from Oxford Nanopore sequencing data.
Read2Tree: scalable and accurate phylogenetic trees from raw reads.

Frequent Keywords

Humans 1,529

Female 729

Male 715

Animals 632

Mutation 335

Sequence Analysis, DNA 311

Polymorphism, Single Nucleotide 289

Phenotype 262

Middle Aged 245

Genomics 237

Mice 235

Genetic Predisposition to Disease 230

Molecular Sequence Data 230

Adult 228

Base Sequence 219

Genome, Human 211

Genetic Variation 207

Child 197

Pedigree 185

Genome-Wide Association Study 172

Exome 170

Genotype 152

Adolescent 152

Child, Preschool 150

Alleles 148

High-Throughput Nucleotide Sequencing 147

Aged 130

Genome 126

DNA Copy Number Variations 108

Chromosome Mapping 108

Phylogeny 103

Gene Frequency 99

Evolution, Molecular 97

Infant 95

Computational Biology 95

White People 95

Risk Factors 93

Young Adult 92

Amino Acid Sequence 90

Genetic Association Studies 89

Exome Sequencing 87

Gene Expression Profiling 84

Cohort Studies 82

Software 82

Polymerase Chain Reaction 79

BCM Home | BCM Intranet | Privacy Notices | Contact BCM | HGSC Intranet

Baylor College of Medicine Human Genome Sequencing Center
Mail: One Baylor Plaza, MS: BCM226, Houston, TX 77030
Phone: 713-798-6539 | Fax: 713-798-5741
E-mail: questions@hgsc.bcm.edu

Copyright © 2024

Home
About Us
- People
- Funding
- News
- Contact Us
- Visiting HGSC
Careers
Projects
Publications
Software
- Atlas2
- ATLAS GapFill
- Atlas-Link
- Atlas Whole Genome Assembly Suite
- Bang
- bcm-ace-plots
- Cassandra
- CBT++
- CoCa
- DRAGEN
- ERIS
- ExCID Report
- Honey
- Jelly
- MegaDot
- Mercury
- Parliament2
- Princess
- SimPed
- Sniffles2
- SNP Tools
- SVCollector
- SVhound
- xAtlas
Resources