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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)

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Page 1: 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)

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 Applications of Whole Genome/Whole Exome Sequencing

Clinical Applications of Whole Genome/Whole Exome Sequencing

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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

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

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Whole Exome Sequencing in genetic diseases

Whole Exome Sequencing in genetic diseases

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Molecular investigation by whole exome sequencing revealed

Molecular investigation by whole exome sequencing revealed

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Whole Exome Sequencing for Variant Discovery and Prioritisation

Whole Exome Sequencing for Variant Discovery and Prioritisation

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Clinical Whole-Exome Sequencing Reveals a Common

Clinical Whole-Exome Sequencing Reveals a Common

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Genomic microarray and whole exome sequencing · Genomic microarray and whole exome sequencing ... Chromosomal Microarray and Whole Exome Sequencing in Children with Intellectual

Genomic microarray and whole exome sequencing · Genomic microarray and whole exome sequencing ... Chromosomal Microarray and Whole Exome Sequencing in Children with Intellectual

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Retrospective evaluation of whole exome and genome

Retrospective evaluation of whole exome and genome

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Whole Exome Sequencing for Variant Discovery and Prioritisation

Whole Exome Sequencing for Variant Discovery and Prioritisation

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

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Whole Exome and Whole Genome Sequencing · Whole Exome and Whole Genome Sequencing Page 3 of 23 UnitedHealthcare West Medical Management Guideline Effective 09/01/2019 Proprietary

Whole Exome and Whole Genome Sequencing · Whole Exome and Whole Genome Sequencing Page 3 of 23 UnitedHealthcare West Medical Management Guideline Effective 09/01/2019 Proprietary

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Enhanced Whole Exome Proﬁling of Tumor Circulating Cell

Enhanced Whole Exome Proﬁling of Tumor Circulating Cell

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Whole-exome sequencing of endometriosis identifies frequent

Whole-exome sequencing of endometriosis identifies frequent

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Whole-exome sequencing identifies novel mutations in ABC

Whole-exome sequencing identifies novel mutations in ABC

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

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

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Whole exome sequencing(wes)

Whole exome sequencing(wes)

Data & Analytics

Allelic Imbalance for Pre-capture Whole Exome Sequencing

Allelic Imbalance for Pre-capture Whole Exome Sequencing

Technology

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

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 identifies genetic variants in ...pure-oai.bham.ac.uk/ws/files/28575521/Johnson_et_al_Whole_exome... · Whole exome sequencing identifies genetic variants in

Whole exome sequencing identifies genetic variants in ...pure-oai.bham.ac.uk/ws/files/28575521/Johnson_et_al_Whole_exome... · Whole exome sequencing identifies genetic variants in

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Whole exome resequencing reveals recessive mutations in

Whole exome resequencing reveals recessive mutations in

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

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

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Whole-exome sequencing identifies a novel - Molecular Vision

Whole-exome sequencing identifies a novel - Molecular Vision

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Comparison of Whole Exome Capture Products Coverage

Comparison of Whole Exome Capture Products Coverage

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Whole Exome Sequencing for Variant Discovery and Prioritisation

Whole Exome Sequencing for Variant Discovery and Prioritisation

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Whole exome sequencing implicates eye development, the ... · the economical next-generation sequencing technique of whole exome sequencing (WES), the current costs and bioinformatics

Whole exome sequencing implicates eye development, the ... · the economical next-generation sequencing technique of whole exome sequencing (WES), the current costs and bioinformatics

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Whole Exome Sequencing - Wa

Whole Exome Sequencing - Wa

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Whole Exome and Whole Genome Sequencing · Whole exome sequencing (WES) is defined as targeted sequencing of the subset of the human genome that contains functionally important sequences

Whole Exome and Whole Genome Sequencing · Whole exome sequencing (WES) is defined as targeted sequencing of the subset of the human genome that contains functionally important sequences

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Whole Exome and Whole Genome Sequencing for Diagnosis of ...€¦ · Whole exome sequencing (WES) sequences the portion of the genome that contains protein-coding DNA, while whole

Whole Exome and Whole Genome Sequencing for Diagnosis of ...€¦ · Whole exome sequencing (WES) sequences the portion of the genome that contains protein-coding DNA, while whole

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Whole Exome Plus - Blueprint Genetics

Whole Exome Plus - Blueprint Genetics

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Whole exome sequencing of patients with diffuse idiopathic

Whole exome sequencing of patients with diffuse idiopathic

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