Hitler Reacts Segmental Duplications and lack of 3rd generation sequencer.
21 views9/7/2026
Unfortunately Allies have access to a newer technology that can read longer reads. Hitler finds that out too late in the competition.
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| 00:00 - 00:03 | Sequencing results arrived for the emergency patient. |
| 00:04 - 00:05 | We have good coverage around most regions. |
| 00:05 - 00:07 | Many causative genes have high quality reads. |
| 00:08 - 00:12 | However some genes had coverage less than desired. |
| 00:12 - 00:15 | Especially SMN1, PMS2, CYP21A2 and GBA1 |
| 00:17 - 00:19 | Does not matter we can do |
| 00:19 - 00:21 | whole genome sequencing and see mutations |
| 00:24 - 00:26 | I am sorry.. |
| 00:27 - 00:28 | but... |
| 00:31 - 00:33 | but those genes lie within segmental duplications |
| 00:34 - 00:36 | short reads cannot resolve them properly. |
| 00:53 - 00:58 | All leave now. Bioinformatics, wetlab and reporting leads should stay. |
| 01:13 - 01:15 | What have I told you before? |
| 01:15 - 01:17 | We do not accept disease patients with potential segmental duplication genes |
| 01:18 - 01:23 | We should keep our diagnosis rate high by ignoring them |
| 01:25 - 01:28 | What are we going to tell the patient now. |
| 01:29 - 01:31 | That we cannot sequence your genes?? |
| 01:31 - 01:34 | I told you to look into procuring a long read sequencer. |
| 01:34 - 01:37 | But you all insisted on pushing whole exome sequencing |
| 01:37 - 01:40 | as if it is the best solution. |
| 01:40 - 01:42 | But our exome diagnosis rate is above 50 percent |
| 01:42 - 01:46 | to hell your 50 percent. |
| 01:46 - 01:48 | We perform MLPA for those genes.. |
| 01:48 - 01:52 | Not all genes have MLPA kits you idiot! |
| 01:53 - 01:54 | What are you going to do? |
| 01:56 - 01:57 | Guess where in the 3 billion bases those gene breaks are? |
| 01:57 - 02:00 | My god how did I recruit such idiots? |
| 02:00 - 02:03 | You are so embecile that you cannot even properly diagnose a patient. |
| 02:04 - 02:08 | You don't even deserve your positions. |
| 02:08 - 02:13 | Only if only if I had one 3rd generation sequencer |
| 02:14 - 02:16 | I would have sequenced the entire country. |
| 02:17 - 02:21 | Not only the entire country |
| 02:27 - 02:29 | I would have sequenced |
| 02:30 - 02:34 | the entire continent |
| 02:34 - 02:36 | the entire europe. |
| 02:41 - 02:42 | every single being. |
| 02:43 - 02:47 | I will cut the costs of this patient from your paychecks. |
| 02:48 - 02:53 | You should check for grant or a collaborator immediately |
| 02:54 - 02:56 | who has one of those 3rd generation sequencers. |
| 02:56 - 02:59 | I won't let you waste any single drop of blood of this patient |
| 03:00 - 03:02 | to you stupid inconclusive wetlab assays. |
| 03:04 - 03:07 | Don't worry we can do a long range PCR to resolve it. |
| 03:14 - 03:16 | If you cannot find a collaborator or a grant for this |
| 03:19 - 03:23 | go ask for a quote from commercial market at least. |
| 03:25 - 03:26 | We have to |
| 03:31 - 03:33 | pay all the costs ourselves. |
| 03:40 - 03:46 | This will be the last patient |
| 03:46 - 03:49 | you will diagnose in this lab. |
| 03:53 - 03:56 | Then give me your resignations. |