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What Genetic Tests For My Intellectually Disabled Son?
My son is profoundly intellectually disabled. What genetic tests would you want run for a case of intellectual disability? This is a serious and honest…
Dec 1
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Nava Whiteford
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What Genetic Tests For My Intellectually Disabled Son?
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November 2023
The Utility of Long Reads...
Many years ago I wrote a paper called “An analysis of the feasibility of short read sequencing”. In this paper we looked at the percentage of substrings…
Nov 29
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Nava Whiteford
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The Utility of Long Reads...
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HiSeq X Cameras and 4 Color Fluorophores
This was supposed to be a easy… just take a few snaps of the cameras in the HiSeq X and write up a quick post… It turn into much more of a journey. It…
Nov 24
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Nava Whiteford
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HiSeq X Cameras and 4 Color Fluorophores
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454.Bio And Reticula
454.Bio (Jonathan Rothberg’s new sequencing startup) has been pretty stealthy regarding how the technology actually works. But some patents are now…
Nov 21
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Nava Whiteford
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454.Bio And Reticula
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An Ultima Genomics Sample Dataset
Running alignment and BEST against random HGP002 datasets is probably starting to get old. But there was at least one more I wanted to try. The Ultima…
Nov 20
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Nava Whiteford
7
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An Ultima Genomics Sample Dataset
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Reticula Patent Search Reports!
Reticula is out of money! Does anyone want the IP? Or to otherwise help me keep the IP moving forward? Here are some recent search reports…
Nov 18
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Nava Whiteford
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Reticula Patent Search Reports!
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A Qitan Technology Nanopore Data Release
Browsing through random sequencing company websites (as you do) I noticed that Qitan Technology have released a couple of datasets from their platform…
Nov 17
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Nava Whiteford
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A Qitan Technology Nanopore Data Release
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Everything Wrong With: "Illumina: The Measurement Monopoly" Part 3/8
Century of Biology still has 10x the subscriptions I do… let’s continue to examine one the the articles posted there as part of this cathartic process…
Nov 16
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Nava Whiteford
2
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Everything Wrong With: "Illumina: The Measurement Monopoly" Part 3/8
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Compute In The HiSeq X
My new old sequencer turned up today! It’s a HiSeq X! Believe it or not the HiSeq X is still supported by Illumina and will be until March of next year…
Nov 15
•
Nava Whiteford
6
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Compute In The HiSeq X
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Oxford Nanopore Simplex Overall Error Rate ~3%? (Best model - New dataset)
After my previous posts on ONT Simplex data I received some great feedback in the Discord channel. So I decided to go search for a different dataset to…
Nov 12
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Nava Whiteford
6
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Oxford Nanopore Simplex Overall Error Rate ~3%? (Best model - New dataset)
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PacBio Revio Error Rate is <0.3%?!
Some kind users on the Discord have pointed out that the fastqs provided by ONT discussed in the previous post may also have been called using the fast…
Nov 10
•
Nava Whiteford
2
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PacBio Revio Error Rate is <0.3%?!
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Everything Wrong With: "Illumina: The Measurement Monopoly" Part 2/8
I’ve created a second substack bitsof.bio. The first post is already up. The plan is to use that for quick short posts, without overwhelming things…
Nov 9
•
Nava Whiteford
4
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Everything Wrong With: "Illumina: The Measurement Monopoly" Part 2/8
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