🗊Презентация Decoupling mutational processes in human germline

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Слайд 1


Decoupling mutational processes in human germline
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Decoupling mutational processes in human germline

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DNA and it’s function
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DNA and it’s function

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Transcription and replication
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Transcription and replication

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Germline mutations
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Germline mutations

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Role of mutations in genetic disease
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Role of mutations in genetic disease

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Germline mutations are induced by a mixture of mutational processes
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Germline mutations are induced by a mixture of mutational processes

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Spatial variation in intensity of the mutational processes generates diverse mutational patterns
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Spatial variation in intensity of the mutational processes generates diverse mutational patterns

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Extracting mutational processes from the spatial variation
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Extracting mutational processes from the spatial variation

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Manifestation of strand dependent and independent mutational processes
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Manifestation of strand dependent and independent mutational processes

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Mutational asymmetry in genes
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Mutational asymmetry in genes

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Manifestation of strand dependent and independent mutational processes
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Manifestation of strand dependent and independent mutational processes

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What do we find?
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What do we find?

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Replication Program
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Replication Program

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What do we find
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What do we find

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Process 7/8 have local bursts
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Process 7/8 have local bursts

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Process 7/8 – maternal signature
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Process 7/8 – maternal signature

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We are able to predict genomic regions susceptible to maternal clusters
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We are able to predict genomic regions susceptible to maternal clusters

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Process 7/8– maternal signature
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Process 7/8– maternal signature

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Process 7/8 asymmetric in respect to transcription
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Process 7/8 asymmetric in respect to transcription

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Process 7/8 asymmetric in respect to transcription
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Process 7/8 asymmetric in respect to transcription

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Mechanistic insights to maternal signature
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Mechanistic insights to maternal signature

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C>G mutations created by secondary mechanism (wrong already)
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C>G mutations created by secondary mechanism (wrong already)

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Third of maternal age effect localized in the regions with high level of the process 7/8
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Third of maternal age effect localized in the regions with high level of the process 7/8

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Signatures 4 and 5 (maternal signatures) summary
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Signatures 4 and 5 (maternal signatures) summary

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Decoupling mutational processes in human germline, слайд №25
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