damiansm

Hi Sungeun, Can you confirm which version of the Exomiser databases you are using so we are sure which version of GnomAD went into our build. I suspect the frequency...

Hi Sungeon, We will get back to you soon with a more detailed response while we check exactly where this difference came from. For now though the only way you...

We definitely need to do this now: https://www.nature.com/articles/s41467-019-13345-5 We know Gareth so could collaborate possibly. and also GADO [GADO_2019.pdf](https://github.com/exomiser/Exomiser/files/3876349/GADO_2019.pdf)

See new ML issue created as well. Should address this within that work

Hi Marta, The HIPHIVE_PRIORITY shows similarity between the patient's HPO terms and HPO terms asscociated with particular diseases (or with phenotypes associated with mouse and fish models and closeby genes...

We should add the sufficiency score meter to the Monarch website for sure. Regarding the scoring we definitely need a replacement that takes into account the quality of the input...

GnomAD have just release a new score as well

Revisit this with GnomAD data: https://gnomad.broadinstitute.org/downloads#v2-constraint Jules has already incorporated into the ACMG classification code. Probably just display LOEUF, pLI etc at the gene level for the HTML and JSON...

Is this related to phenotype annotation frequency data as provided by Orphanet to weight our scores. Need to wait until the Bayesian implementation to do properly

Lets talk on Friday in the roadmap meeting! I have one set of cases from Exeter to test against at least. On Tue, Jul 11, 2017 at 12:47 AM, Peter...