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Human Genome Sequencing Center
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Human Genome Sequencing Center - Faculty-General/Basic (Instructor)
Human Genome Sequencing Center - Informatics-Nex Gen (Associate Professor)
Postdoctoral Associate- Genomics
Postdoctoral Associate- Statistical Genetics Division: Human Genome Sequencing Center
Research Technician III
Projects
Clinical Lab
eMERGE
HeartCare
KidsCanSeq Study
RIGHT10K Study
TMC-CZI Project
Cancer Genomics
The Cancer Genome Atlas Project (TCGA)
Intracranial germ cell tumors
Pancreaticobiliary and duodenal tumors
Polycythemia vera
Human Genomics
Charcot-Marie-Tooth Project
CHARGE Consortium
eMERGE
Genomic Variation
Genomics and Space Medicine (Space Omics)
GREGoR
Human Genome Project
Ion Channel Project
SNP Discovery
Somatic Mosaicism Across Human Tissues (SMaHT)
Trans-Omics for Precision Medicine (TopMed)
Microbial Genomics
Microbial Projects
A. apis
A. castellani Neff
B. pumilus F036B
B. pumilus SAFR-032
D. crinitum OH494
D. discoideum AX4
E. coli DH10B
E. faecalis OG1
F. nucleatum ATCC10953
F. nucleatum ATCC23726
F. tularensis MI001730
F. tularensis OR96246
F. tularensis OSU18
F. tularensis RC503
Moraxella bovis Epp63
M. haemolytica PHL213
Paenibacillus larvae
P. stewartii
P. violaceum P6
R. typhi
S. aureus MRSA USA300
S. aureus MSSA
S. iniae
Texas Medical Center Genomic Center for Infectious Diseases (TMC GCID)
Microbiome Data Release Policy
Comparative
Non-human primates
Baboon
Black and white colobus
Chimpanzee
Drill
Gibbon
Marmoset
Mouse lemur
Orangutan
Owl monkey
Rhesus monkey
Sifaka lemur
Sooty mangabey
Other Mammals
Armadillo
Bovine
Hyrax
Kangaroo Rat
Megabat
Mouse
Peromyscus
Rat
Sheep
Wallaby
Y Chromosome
Marine Mammals
Dolphin
Killer whale
Reptiles
Adder
Arthropods
i5K Pilot
Asian long-horned beetle
Bark scorpion
Bed bug
Brown marmorated stink bug
Brown recluse spider
Bull-headed dung beetle
Caddisfly
Colorado potato beetle
Common house spider
Emerald ash borer
Eurytemora affinis
German cockroach
Glassy-Winged Sharpshooter
Hackberry petiole gall psyllid
Hrabe's jumping bristletail
Hyalella azteca
Mayfly
Mediterranean fruit fly
Milkweed bug
Parasitic wasp: T. pretiosum
Parasitic wasp: C. floridanum
Parasitic wood wasp: O. abietinus
Scarce Chaser
Sheep blowfly
Silvestri's Northern Forcepstail
Turnip sawfly
Velvet worm
Water strider
Western black widow spider
Western flower thrips
Aphid
Bees
Bumble Bee
Dwarf Honey Bee
Honey Bee
Drosophila
D. melanogaster
D. pseudoobscura
Library Construction
DGRP
DGRP Lines
modEncode
Black Fly
Butterfly
Centipede
Hessian Fly
Mite
Parasitic Wasp
Red flour beetle
Sand Fly
Tobacco Hornworm
Other Invertebrates
Acorn Worm
Cuttlefish
Sea Urchin
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
FTP Site
FTP Site Help
Conditions of use
HGSC Intranet
Glossary
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Popular Content
Germline mutation in : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.
Progress in Technology
Primary Infection May Be an Underlying Factor Contributing to Lethal Hemorrhagic Disease Caused by Elephant Endotheliotropic Herpesvirus 3 in African Elephants ().
Genome-wide meta-analyses reveal novel loci for verbal short-term memory and learning.
Meagan Sam
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
NF-κB and STAT3 co-operation enhances high glucose induced aggressiveness of cholangiocarcinoma cells.
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results.
Global molecular alterations involving recurrence or progression of pediatric brain tumors.
Glutathione peroxidase 2 is a metabolic driver of the tumor immune microenvironment and immune checkpoint inhibitor response.
Genomic analysis of two phlebotomine sand fly vectors of Leishmania from the New and Old World.
Epigenetic and integrative cross-omics analyses of cerebral white matter hyperintensities on MRI.
Type 2 Diabetes Partitioned Polygenic Scores Associate With Disease Outcomes in 454,193 Individuals Across 13 Cohorts.
Intratumoral Heterogeneity and Clonal Evolution Induced by HPV Integration.
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions.
Joseph Petrosino, Ph.D.
Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato.
Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease.
Chromosome-scale, haplotype-resolved assembly of human genomes.
Genomic signatures of high-altitude adaptation and chromosomal polymorphism in geladas.
Rat Genome Project History
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
DangerTrack: A scoring system to detect difficult-to-assess regions.
Author Correction: High-depth African genomes inform human migration and health.
Genome-Wide Analysis of Structural Variants in Parkinson Disease.
Response to Biesecker et al.
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.
Correction to: Diversity and evolution of the transposable element repertoire in arthropods with particular reference to insects.
Exome variant discrepancies due to reference-genome differences.
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Genome-wide coancestry reveals details of ancient and recent male-driven reticulation in baboons.
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
Association of Mitochondrial DNA Copy Number With Brain MRI Markers and Cognitive Function: A Meta-analysis of Community-Based Cohorts.
Complex mosaic structural variations in human fetal brains.
A novel statistical method for interpreting the pathogenicity of rare variants.
The Human Genome Project changed everything.
New insights into the genetic etiology of Alzheimer's disease and related dementias.
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China.
Phenotypic Variability of SOCS1 Haploinsufficiency.
Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions.
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).
Biallelic Pathogenic Variants in Associated With Congenital Myopathy.
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System.
Association Between Midlife Obesity and Kidney Function Trajectories: The Atherosclerosis Risk in Communities (ARIC) Study.
Teaser: Individualized benchmarking and optimization of read mapping results for NGS data.
Objective measures of sleep disturbances in children with Potocki-Lupski syndrome.
Novel Anaplastic Thyroid Cancer PDXs and Cell Lines: Expanding Preclinical Models of Genetic Diversity.
Harmonizing variant classification for return of results in the All of Us Research Program.
TQFL12, a novel synthetic derivative of TQ, inhibits triple-negative breast cancer metastasis and invasion through activating AMPK/ACC pathway.
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Meta-analysis of host transcriptional responses to SARS-CoV-2 infection reveals their manifestation in human tumors.
SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research.
Multi-Ancestry Genome-wide Association Study Accounting for Gene-Psychosocial Factor Interactions Identifies Novel Loci for Blood Pressure Traits.
Clinical and molecular features of pediatric cancer patients with Lynch syndrome.
Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program.
Single-cell transcriptomics identifies limbal stem cell population and cell types mapping its differentiation trajectory in limbal basal epithelium of human cornea.
Drivers of transcriptional variance in human intestinal epithelial organoids.
A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.
A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Beyond MRI: on the scientific value of combining non-human primate neuroimaging with metadata.
De novo Mutations in Domestic Cat are Consistent with an Effect of Reproductive Longevity on Both the Rate and Spectrum of Mutations.
Author Correction: Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study.
A complete reference genome improves analysis of human genetic variation.
Transcriptional Reprogramming Differentiates Active from Inactive ESR1 Fusions in Endocrine Therapy-Refractory Metastatic Breast Cancer.
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease.
American Heart Association's Life's Simple 7: Lifestyle Recommendations, Polygenic Risk, and Lifetime Risk of Coronary Heart Disease.
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.
Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants.
Shalini Jhangiani
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Author Correction: Discovery and population genomics of structural variation in a songbird genus.
Proteogenomic Markers of Chemotherapy Resistance and Response in Triple-Negative Breast Cancer.
TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data.
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.
Human NK cell deficiency as a result of biallelic mutations in MCM10.
Clinical characterization of individuals with the distal 1q21.1 microdeletion.
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.
Kidney Risk Variants and Proteomics.
Sex-specific epigenetic development in the mouse hypothalamic arcuate nucleus pinpoints human genomic regions associated with body mass index.
Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients.
Proteomics analysis of plasma from middle-aged adults identifies protein markers of dementia risk in later life.
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Author Correction: Towards accurate and reliable resolution of structural variants for clinical diagnosis.
Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis.
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Walker Hale
Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare Study.
Serum sphingolipids and incident diabetes in a US population with high diabetes burden: the Hispanic Community Health Study/Study of Latinos (HCHS/SOL).
Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
Clonal haematopoiesis and risk of chronic liver disease.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease.
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Home
About Us
People
Funding
News
Contact Us
Visiting HGSC
Careers
Human Genome Sequencing Center - Faculty-General/Basic (Instructor)
Human Genome Sequencing Center - Informatics-Nex Gen (Associate Professor)
Postdoctoral Associate- Genomics
Postdoctoral Associate- Statistical Genetics Division: Human Genome Sequencing Center
Research Technician III
Projects
Clinical Lab
eMERGE
HeartCare
KidsCanSeq Study
RIGHT10K Study
TMC-CZI Project
Cancer Genomics
The Cancer Genome Atlas Project (TCGA)
Intracranial germ cell tumors
Pancreaticobiliary and duodenal tumors
Polycythemia vera
Human Genomics
Charcot-Marie-Tooth Project
CHARGE Consortium
eMERGE
Genomic Variation
Genomics and Space Medicine (Space Omics)
GREGoR
Human Genome Project
Ion Channel Project
SNP Discovery
Somatic Mosaicism Across Human Tissues (SMaHT)
Trans-Omics for Precision Medicine (TopMed)
Microbial Genomics
Microbial Projects
A. apis
A. castellani Neff
B. pumilus F036B
B. pumilus SAFR-032
D. crinitum OH494
D. discoideum AX4
E. coli DH10B
E. faecalis OG1
F. nucleatum ATCC10953
F. nucleatum ATCC23726
F. tularensis MI001730
F. tularensis OR96246
F. tularensis OSU18
F. tularensis RC503
Moraxella bovis Epp63
M. haemolytica PHL213
Paenibacillus larvae
P. stewartii
P. violaceum P6
R. typhi
S. aureus MRSA USA300
S. aureus MSSA
S. iniae
Texas Medical Center Genomic Center for Infectious Diseases (TMC GCID)
Microbiome Data Release Policy
Comparative
Non-human primates
Baboon
Black and white colobus
Chimpanzee
Drill
Gibbon
Marmoset
Mouse lemur
Orangutan
Owl monkey
Rhesus monkey
Sifaka lemur
Sooty mangabey
Other Mammals
Armadillo
Bovine
Hyrax
Kangaroo Rat
Megabat
Mouse
Peromyscus
Rat
Sheep
Wallaby
Y Chromosome
Marine Mammals
Dolphin
Killer whale
Reptiles
Adder
Arthropods
i5K Pilot
Asian long-horned beetle
Bark scorpion
Bed bug
Brown marmorated stink bug
Brown recluse spider
Bull-headed dung beetle
Caddisfly
Colorado potato beetle
Common house spider
Emerald ash borer
Eurytemora affinis
German cockroach
Glassy-Winged Sharpshooter
Hackberry petiole gall psyllid
Hrabe's jumping bristletail
Hyalella azteca
Mayfly
Mediterranean fruit fly
Milkweed bug
Parasitic wasp: T. pretiosum
Parasitic wasp: C. floridanum
Parasitic wood wasp: O. abietinus
Scarce Chaser
Sheep blowfly
Silvestri's Northern Forcepstail
Turnip sawfly
Velvet worm
Water strider
Western black widow spider
Western flower thrips
Aphid
Bees
Bumble Bee
Dwarf Honey Bee
Honey Bee
Drosophila
D. melanogaster
D. pseudoobscura
Library Construction
DGRP
DGRP Lines
modEncode
Black Fly
Butterfly
Centipede
Hessian Fly
Mite
Parasitic Wasp
Red flour beetle
Sand Fly
Tobacco Hornworm
Other Invertebrates
Acorn Worm
Cuttlefish
Sea Urchin
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
FTP Site
FTP Site Help
Conditions of use
HGSC Intranet
Glossary