Hitler Reacts Segmental Duplications and lack of 3rd generation sequencer.

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