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Filters: Author is Veltman, Joris A [Clear All Filters]

2015

Veltman JA, Lupski JR. From genes to genomes in the clinic. Genome Med. 2015 ;7(1):78.

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Trending Publications

Whole Genome Analysis of SNV and Indel Polymorphism in Common Marmosets ().
Characterization and visualization of tandem repeats at genome scale.
Genomic data in the All of Us Research Program.
Single-cell somatic copy number variants in brain using different amplification methods and reference genomes.
Utility of long-read sequencing for All of Us.
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
Detection of mosaic and population-level structural variants with Sniffles2.
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.

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 1,513

Female 724

Male 712

Animals 628

Mutation 334

Sequence Analysis, DNA 311

Polymorphism, Single Nucleotide 288

Phenotype 261

Middle Aged 244

Genomics 236

Mice 233

Molecular Sequence Data 230

Genetic Predisposition to Disease 229

Adult 227

Base Sequence 219

Genome, Human 210

Genetic Variation 207

Child 195

Pedigree 185

Genome-Wide Association Study 172

Exome 170

Genotype 151

Adolescent 151

Child, Preschool 149

Alleles 148

High-Throughput Nucleotide Sequencing 146

Aged 130

Genome 125

Chromosome Mapping 108

DNA Copy Number Variations 107

Phylogeny 103

Gene Frequency 99

Evolution, Molecular 97

White People 95

Computational Biology 95

Infant 94

Risk Factors 92

Young Adult 91

Amino Acid Sequence 90

Genetic Association Studies 89

Exome Sequencing 85

Gene Expression Profiling 84

Cohort Studies 81

Software 80

Polymerase Chain Reaction 79

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Home
About Us
- People
- Funding
- News
- Contact Us
- Visiting HGSC
Careers
- Postdoctoral Associate- Genomics
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