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 genes 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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MacArthur Lab Extracting useful information from large genomic datasets.

Extracting useful information from large genomic datasets. The MacArthur lab uses cutting-edge genomic technologies at massive scale to understand the impact of human genetic variation, and to provide answers to families affected by rare genetic diseases. We lead an international consortium that has assembled ExAC. Is an intuitive online portal for exploring exome and whole-genome sequencing data from rare disease families.

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seqr

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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 genes 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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This domain seqr.broadinstitute.org has the following in the homepage, "Added a new Gene ExAC Freq." We observed that the website also stated " sort option to variant search results which first sorts by Gene and then by ExAC allele frequency." It also stated " Gene Details dialog now includes a description of the genes 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. When a variant falls in a gene that ha."

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