Skyhawk | Artificial Neural Network-based discriminator | Genomics library
kandi X-RAY | Skyhawk Summary
kandi X-RAY | Skyhawk Summary
With the increasing throughput and reliability of sequencing technologies in the recent years, it is getting common that medical doctors rely on sequencing to make better diagnostics for cancers and rare diseases. Among the interpretable results that sequencing can provide, genetic variants that have been reported in renowned databases such as Clinvar and HGMD, with evidence showing that they associate with certain symptoms and therapies, are considered as actionable genetic variant candidates. However, even though the state-of-the-art variant callers achieve better precision and sensitivity, it is still not uncommon for the variant callers to produce false positive variants with somehow a pretty high probability, which makes them unable to tell apart from the true positives. The situation gets even worse when the callers are set to favor sensitivity over precision, which is often the case in clinical practices. The false positives variants, if not being sanitized, will lead to a spurious clinical diagnosis. Instead of relying only on what a variant caller tells, clinical doctors usually verify the correctness of actionable genetic variants by eyes, with the help of IGV or SAMtools tview. 'Skyhawk' was designed to expedite the process and save the doctors from eye checking the variant, using a deep neural network based "eye", trained with millions of samples on how a true variant "looks like" in different settings.
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Top functions reviewed by kandi - BETA
- Run check
- Get a tensor
- Runs the model without training
- Checks if a command exists
- Setup environment variables
- Restore parameters from a function
- Checks if file exists
- Close the session
- Unpack an ATTRAN record
- Outputs an AlnTensor
- Generates Tensor
- Generator for reading reads
- Yield candidates from start to end
- Build the graph
- Wrapper for dropout
- Build a training array from a TensorBoard
- Output a variant
- Annotate a VCF file with annotations
- Check and exit code
- Tries to poll the server
Skyhawk Key Features
Skyhawk Examples and Code Snippets
Community Discussions
Trending Discussions on Skyhawk
QUESTION
I have the following XML document
...ANSWER
Answered 2021-Jan-23 at 07:55I know this is not quite in the spirit of the question. However, it should be as simple as
QUESTION
I have a table that looks like this -
...ANSWER
Answered 2020-Apr-19 at 17:41If you want the Manufacturer to be sorted by the amount of Models:
QUESTION
I need to get the following output using a FLWOR expression.
...ANSWER
Answered 2019-Jun-28 at 08:44You only want to create one oldPlanes
element so its construction needs to be outside the FLWOR expression:
QUESTION
I have an XML file in which I have to find the number of occurrences of a word i the XML file. Consider, I have a sample XML file as below
...ANSWER
Answered 2018-Nov-23 at 08:41Based on what you've asked for, Regex.Matches(File.ReadAllText(myFile), "Gold").Count
will do the job, probably more efficiently than anything you can write yourself.
But a more interesting problem is to find all planes whose Color property is Gold :)
(oh I forgot to ask about case sensitivity, but you can specify that in the 2nd parameter to Regex.Matches)
QUESTION
I am looking for a practical way to parse an xml root element an get some values from it. I have tried many ways, but none of them are efficient.
...ANSWER
Answered 2018-Oct-15 at 19:19Try with marshaling and unmarshalling mechanism
QUESTION
So I have reviewed all of the posts about this and have tried everything... My content is pushing my footer down as I want. However, there is a very small portion of a div that is overlaying my footer. It can be found at http://www. newshongumpto.org
Its only that bottom portion of the div and I cannot figure out why. I had to move my footer css to the actual includes files as it wasn't find the media query to hide the footer on mobile but I digress. I know, a lot going on here:
Site CSS:
...ANSWER
Answered 2018-Sep-18 at 16:00You have this...
QUESTION
So I get that that is a silly beginner question, but I can't figure it out. Its two parts:
THE SETUP
So I want to have a universal navbar on my site. I created a navigation.php file and I am using include on every page.
THE PROBLEM
On my index page, it is working great. However all of my other pages are within a contentFiles folder. When I navigate from the index page, back to the index page the contentPages, the sub-directory stays in the URL.
To see exactly what it is doing: 1. Go to http://www.newshongumpto.org 2. Click on News/Calendar > Calendar 3. Click on Home
Any suggestions? My next questions is how to make this dynamic from my dB, but I think I will attempt that first before coming back.
...ANSWER
Answered 2018-Sep-14 at 12:58Change href="index.php"
to href="/index.php"
Similarly add slash to all your urls . This way, all your urls will be routed from your website's base url
QUESTION
I'm so done looking at this code. I simply cannot find where I am making a mistake, however only a portion of my CSS is processing for my page. Literally, from the image down, and yet I am unable to find any issue. Even the gradient is processing correctly. Ironically, the footer, for example, is in fact processing here. Any ideas?
...ANSWER
Answered 2018-Aug-23 at 00:38I believe the problem is simply too many errors in your CSS. It is not that part of your stylesheet is not being applied, it is that many of your rules are written incorrectly so that they do not style elements as you appear to intend. For example, this selector
QUESTION
So I would like to make a plot that would have my points for 3 different groups (cars) but as a general area , much like the blobs on this sketch. Ideally it would have a darker hue in the areas where the points lay. Any ideas?
DATA TO WORK WITH
...ANSWER
Answered 2018-Mar-02 at 16:09You can use function geom_encircle
from package ggalt
to draw "blobs" (decrease alpha
for shaded area).
QUESTION
I have an rdd as rowsrdd
given below, to which i have apply aggregation by using keyby()
on keys (0,8)
and reducebykey()
on key (1)
:
ANSWER
Answered 2017-Apr-01 at 12:16You should map country_name
as your sole key, and then you can just use reduceByKey()
:
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