genomics: whole genome, whole exome & targeted (re

Genomics: whole genome, whole exome & targeted (re)sequencing Department of Molecular Genetics Variant annotation & prioritization Data visualization, quality assessment, … variant impact (e.g. miRNA)

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Genomics: whole genome, whole

exome & targeted (re)sequencing Department of Molecular

Genetics

Variant annotation & prioritization Data visualization, quality assessment, … variant impact

(e.g. miRNA)

Page 2: Genomics: whole genome, whole exome & targeted (re

Transcriptomics Department of Molecular

Genetics Total mRNA

HiSeq2000

PE sequencing data

Quality control Fastqc, RSeQC

Adapter and quality

trimming Trimmomatic

Alignment Tophat, Star, Gsnap

Page 3: Genomics: whole genome, whole exome & targeted (re

Omics data mining & integration Department of Molecular

Genetics

JBrowse - Visual database for SNV and RNA Seq Clustering, pathway mining, ...

Page 4: Genomics: whole genome, whole exome & targeted (re

Data management & automation Department of Molecular

Genetics

In house LIMS system

Server management Data storage & backup Pedigree visualization

Clinical Whole-Exome Sequencing Reveals a Common

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Trio Exome Analysis...Trio Exome Analysis using whole exome/clinical exome sequencing facilitates analyses of thousands of genes simultaneously to identify genetic alterations like

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Whole-Exome Sequencing - Roche · 2020. 12. 23. · 2 For Research Use Only. Not for use in diagnostic procedures. WHOLE-EXOME SEQUENCING Every sample is precious Whole Exome Sequencing

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Whole-Exome Sequencing Identifies Rare and Low-Frequency ...dlin.web.unc.edu/files/2015/02/whole-exome-sequencing.pdfARTICLE Whole-Exome Sequencing Identiﬁes Rare and Low-Frequency

Whole exome sequencing coupled with unbiased functional ... · Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes ... Ingenuity

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Whole Exome and Whole Genome Sequencing (for Louisiana ... · Whole Exome Sequencing (WES): About 1% of a person’s DNA makes protein. These protein making sections are called exons

Whole exome sequencing identifies genetic variants in ... · Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

Whole Exome and Whole Genome Sequencing for Diagnosis 2.04 ... · Standard Whole Exome Sequencing or Whole Genome Sequencing . Standard WES or WGS turn-around time is usually 1 to

SYSTEMS BIOLOGY STUDIES OF WHOLE EXOME DATA FOR …

Whole exome precision oncology targeting synthetic lethal ... · 16/02/2020 · Whole exome precision oncology targeting synthetic lethal vulnerabilities across the tumor transcriptome

Whole Exome Plus - Blueprint Genetics

Whole Exome Sequencing for Variant Discovery and Prioritisation

Whole Exome and Whole Genome Sequencing for Diagnosis of ...€¦ · Whole Exome and Whole Genome Sequencing for Diagnosis of Genetic Disorders 2 neurodevelopmental disorders. The

Whole exome resequencing reveals recessive mutations in

Whole Exome Sequencing - Blueprint Genetics€¦ · whole-genome sequencing in Whole Exome Plus or Whole Exome Family Plus products). Furthermore, the pipeline employs accurate methods

Novel SACSMutations Identified by Whole Exome Sequencing …...Novel SACSMutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia