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seqr.broadinstitute.org

seqr

August 19, 2016. Added a new Gene ExAC Freq. sort option to variant search results which first sorts by Gene and then by ExAC allele frequency. Gene Details dialog now includes a description of the gene's function from UniProt. New 'Summary of Findings' link on the Project page presents a summary of family analysis statuses, tagged variants, and phenotypes entered. Fixed bug where Variant search showed an error message when using very long gene lists. July 17, 2016. When a variant falls in a gene that ha...

http://seqr.broadinstitute.org/

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seqr | seqr.broadinstitute.org Reviews
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August 19, 2016. Added a new Gene ExAC Freq. sort option to variant search results which first sorts by Gene and then by ExAC allele frequency. Gene Details dialog now includes a description of the gene's function from UniProt. New 'Summary of Findings' link on the Project page presents a summary of family analysis statuses, tagged variants, and phenotypes entered. Fixed bug where Variant search showed an error message when using very long gene lists. July 17, 2016. When a variant falls in a gene that ha...
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seqr | seqr.broadinstitute.org Reviews

https://seqr.broadinstitute.org

August 19, 2016. Added a new Gene ExAC Freq. sort option to variant search results which first sorts by Gene and then by ExAC allele frequency. Gene Details dialog now includes a description of the gene's function from UniProt. New 'Summary of Findings' link on the Project page presents a summary of family analysis statuses, tagged variants, and phenotypes entered. Fixed bug where Variant search showed an error message when using very long gene lists. July 17, 2016. When a variant falls in a gene that ha...

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macarthurlab.org macarthurlab.org

Rare disease gene discovery | MacArthur Lab

https://macarthurlab.org/rare-disease

Extracting useful information from large genomic datasets. Rare disease gene discovery. Rare disease gene discovery. We develop and apply genomic approaches (especially exome, whole-genome and transcriptome sequencing) and informatic methods to discover disease-causing mutations in severe disease patients, with a particular focus on neuromuscular diseases such as muscular dystrophy. Our tool seqr. Is an intuitive browser-based system for analyzing exome and genome data from rare disease families. Convert...

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August 19, 2016. Added a new Gene ExAC Freq. sort option to variant search results which first sorts by Gene and then by ExAC allele frequency. Gene Details dialog now includes a description of the gene's function from UniProt. New 'Summary of Findings' link on the Project page presents a summary of family analysis statuses, tagged variants, and phenotypes entered. Fixed bug where Variant search showed an error message when using very long gene lists. July 17, 2016. When a variant falls in a gene that ha...

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