Personal Information
Organização/Local de trabalho
Bozeman, Montana United States
Setor
Medical / Health Care / Pharmaceuticals
Site
www.goldenhelix.com
Sobre
Golden Helix has been delivering industry-leading bioinformatics solutions for the advancement of life science research and translational medicine for over 20 years with 1,000s of users around the world. Their innovative technologies and analytic services empower scientists and healthcare professionals at all levels to derive meaning from the rapidly increasing volumes of genomic data produced from NGS sequencers and microarrays. With their solutions, hundreds of the world's top hospitals, testing labs, pharmaceutical, biotech, and academic research organizations can harness the full potential of genomics to identify the cause of disease, improve the efficacy and safety o
Marcadores
golden helix
varseq
vsclinical
next gen sequencing
variant interpretation
acmg guidelines
cancer genetics
copy number variation
amp guidelines
ngs data
genomics
clinical report
ngs
variant annotation
snp and variation suite
cnv
biotechnology
genetic analysis
whole exome
copy number variants
genomic data
variant analysis
somatic
cancerkb
genetics
annotation sources
svs
genomic prediction
whole genome
oncogenicity
whole exome sequencing
cancer
clinically relevant variants
whole genome sequencing
gene panels
tertiary analysis
clinical workflows
gblup
genome wide association study
gwas
germline
cancer genes
cnvs
acmg
next generation sequencing
variant evaluation
cnv calling
exomes
exome
single exome
gene panel
biotech
precision medicine
cancer biomarkers
pharmacogenetics
pharmaceutical
short read
long read
acmg variants
varseq 2.4.0
genetic mutations
prenatal genetics
amp
vscnv
massive parallel sequencing
software
bioinformatics
data analysis
structural variants
cnv detection
phenotypes
vs-cnv
snp data
rare diseases
trio analysis
secondary analysis
annotation catalog
vswarehouse
agrigenomics
genomic analysis
splice site variants
pathogenicity
gene fusions
indels
snps
diagnostic clinical reports
ce mark
ivdr
pharmacogenomics
pharma
vspgx
probe desnities
twist biosciences
twist
pac bio
pacbio
snvs
prs
polygenic risk score
carrier screening
oncogenic variants
oncogenic
oncgenic
onco
clinical ongenic
varseq 2.5.0
ngs workflow
ngs validation
couple workflows
small variants
medelian disorders
assays
wes
automation
cancerkb 2.0
coverage statistics
cram
tso500
illumina
family
var
copy number variant
dragen
software development
science
research
database
pca
goldenhelix
clingen
warehousing solutions
single nucleotide variants
variant anaysis
clinvar
dna analysis
loss of function
dr. robert hamilton
sickkids
pcr tests
viral infection
sars-cov-2
covid19
covid-19
match gene lists
count alleles
phorank
dbnsfp
cosmic and civic
omim
gnomad
clinical trials
patient-linked data
firewall
medical records
healthcare
cyber security
tumor-normal
sentieon
chromosomal microarrays
cattle dataset
k-fold
beagle imputation
vsreports
loss of homozygosity
loh variants
wisp3 mutation
alopecia
reza sailani
stanford university department of genetics
genetic software
inheritance patterns
vcf
hereditary disease
large-n
bayes c-pi
bayes c
phenotypic traits
inherited diseases
virtus diagnostics
catfish
digital health
university of british columbia
mark trinder
research translation
cosmic
prognostic clinical reports
molecular therapy
biomarkers
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