melnel000

Advanced options

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Hi Egor What is the difference between the dag-aligner and path-aligner and the seeking and streaming analysis modes under the advanced options? I would like to understand when it may...

how do you perform the full resolution typing?

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I am able to perform the 4 digit typing on the sample data (test.bam) using the following command line: docker run -v `pwd`:`pwd` -w `pwd` humanlongevity/hla \ --sample_id test --input_bam_path...

Hi. I would like to find out which library preparation kit was used for the IPDC dataset. Thanks, Melissa.

congenital myasthenic syndrome 4

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### Label congenital myasthenic syndrome 4 ### Synonyms _No response_ ### Synonym type None ### Definition Any congenital myasthenic syndrome in which the cause of the disease is a mutation...

Request to add new gene related syndrome term for DHDDS

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**Preferred gene-related syndrome label** DHDDS-related syndrome **Synonyms** NA **Parent term (use [OLS] hereditary neurological disease MONDO:0100545 **Definition** Any neurological disorder in which the cause of the disease is a mutation...