![]() Most IEIs are attributed to single-gene variants that cause abnormal immune function. From a counseling perspective, a genetic diagnosis can provide closure, clarify recurrence risk, and guide reproductive decision-making ( 11, 12). For instance, molecular diagnosis may lead to the initiation of mechanism-based precision therapies or escalation to hematopoietic stem cell transplant ( 5, 9– 11). A genetic diagnosis may impact management for roughly half of all patients diagnosed ( 5). Identifying the underlying genetic etiology of an IEI may have important implications for prognosis and treatment. While the symptoms of specific IEIs are wide-ranging, many IEIs have significant phenotypic overlap, making clinical diagnosis challenging ( 8). Patients may present with infections, autoimmunity, or risk of malignancy ( 2– 7). Inborn errors of immunity (IEI) include over 400 inherited disorders of the immune system with a wide spectrum of clinical manifestations ( 1). Such a combined approach to genetic testing helps untangle complex phenotypes, not only by clarifying the differential diagnosis, but in some cases by identifying multiple diagnoses contributing to the overall clinical presentation. Overall, CMA contributed to 18/134 diagnoses (13.4%), increasing the overall diagnostic yield by 15.5% beyond ES alone.Ĭonclusion: Pairing ES and CMA can provide a comprehensive evaluation to clarify the complex factors that contribute to both immune and non-immune phenotypes. Half of the participants with CMA contribution to diagnosis had CNVs in at least one non-immune gene, highlighting the clinical complexity of these cases. Three (2.2%) participants had diagnostic molecular findings from both ES and CMA, including two compound heterozygotes and one participant with two distinct diagnoses. An additional 15/134 (11.2%) were diagnosed by CMA alone, including two likely de novo changes. ![]() Of these, 116/134 (86.6%) were diagnosed by ES alone. Results: Of the 332 probands, 134 (40.4%) received molecular diagnoses. The analysis included primary, secondary, and incidental findings. Methods: We performed exome sequencing (ES) and CMA for 332 unrelated pediatric probands referred for evaluation of IEI. We sought to determine the diagnostic contribution of CNVs using genome-wide chromosomal microarray analysis (CMA) in children with IEI. Purpose: Though copy number variants (CNVs) have been suggested to play a significant role in inborn errors of immunity (IEI), the precise nature of this role remains largely unexplored. 8National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, United States.7Division of Pulmonary Diseases and Critical Care Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.6National Eye Institute, National Institutes of Health, Bethesda, MD, United States.5Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States.4Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.3Baylor Genetics, Houston, TX, United States.2National Cancer Institute, National Institutes of Health, Bethesda, MD, United States.1National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.Oler 1, Kathleen Jevtich 1, Yunting Yu 1, Haley Hullfish 1, Bibiana Bielekova 1, Pamela Frischmeyer-Guerrerio 1, An Dang Do 5, Laryssa A. Setzer 1, Colleen Jodarski 1, Rylee Duncan 1, Devin Hunt 1, Madison Mixer 1, Wenjia Cao 1, Weimin Bi 3,4, Daniel Veltri 1, Eric Karlins 1, Lingwen Zhang 1, Zhiwen Li 1, Andrew J. Seifert 1, Leila Jamal 2, Michael Kamen 1, Michael R.
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![]() The nacelles are the only weak point in the model. The pieces fit together very tightly, making this model very sturdy… except for its nacelles. It’s a good thing that shuttle was so blocky in appearance, but it’s also a testament to BlueBrixx’s attention to detail in what they chose to re-create in brick form. What impresses me the most is just how closely the brick model resembles the onscreen Galileo shuttle from the Original Series. The pieces fit together just like LEGOs do, likely because LEGO’s patents have expired and now other companies can make brick pieces exactly to LEGO’s specs. Even though these weren’t LEGOs, the build experience was completely indistinguishable from building with LEGO bricks. It’s been a few years since I’ve built a brick set, but I was able to finish this shuttle in just under three hours. That all finally changed when began selling officially licensed Star Trek sets – and as I’m partial to minifig scale vehicles, the first set I chose to get was their 493-piece Class F shuttlecraft. Alas, despite LEGO adding licensed sets from many pop culture franchises like Marvel, Disney, and Jurassic World over the years, there was never a Star Trek set. These kits, both small and large, have been making their way to fans worldwide (as the company is only licensed to sell their Trek wares in Germany) over the last few months, and today we take a good look at the first-wave Galileo shuttlecraft and second-wave runabout Rio Grande builds, with a review from TrekCore reader review photos courtesy of IronCaniac.Įver since I was a kid and saw the first LEGO space themed set, I hoped that there eventually would be a Star Trek theme. ![]() Germany brick-build set company BlueBrixx made their way into the Star Trek universe in late 2020, and their second wave of products caught fans interest this summer with giant construction kits for the Deep Space 9 space station, a full-sized Starfleet phaser rifle, and more. ![]() I replaced the included ffmpeg.exe/ffprobe.exe with the latest release versions from the Zeranoe site and tested the output cut with opusinfo.exe, all seems "as advertised." Note that GUI interface does not show waveform, you advance through the audio itself by playing it from a simple play/pause control or with a rather rough seek bar but times are shown to the millisecond. Quote from: sveakul on 22:33:36 Shinsekai-thank you for the heads up on this! I have tried LosslessCut today and can verify that it will read and cut Opus audio files. The cuesheet is like the one proposed by, AFAIR, CDRWIN. ![]() Print "Exception occured running main():" Return (options.filename, options.split_size) ![]() If options.filename and (options.split_size != None): Help = "split or chunk size in seconds, for example 10 if 0 is given, -f refers to a cuefile", Help = "file to split, for example sample.avi", "'" #Omit -t when last piece will be created Split_str = " -ss "+str(split_start)+((" -t "+str(split_end - split_start)) if split_end != -1 else "") + \ Split_cmd = splitbin + " -i '"+filename+"' -codec copy " # Enable audio, too Print "There aren't at least two indices in cuefile." Output = subprocess.Popen(split_cmd+split_str, shell = True, stdout = Print "About to run: "+split_cmd+split_str Split_str += " -ss "+str(split_start)+" -t "+str(split_length) + \ Split_cmd = splitbin + " -i '"+filename+"' -vcodec copy " Print "Video length is less then the target split length." Split_count = int(math.ceil(video_length/float(split_length))) Print "Video length in seconds: "+str(video_length) (filename, split_length) = parse_options() Re_cue_title = re.compile(cue_title_regexp, re.MULTILINE) Re_cue_index = re.compile(cue_index_regexp) Re_cue_reffile = re.compile(cue_reffile_regexp) Parts with given length or in induvidual sized parts as stated by a cuesheet.""" """Script in order to split a media file in smaller parts. tbh I'm surprised it even complies with HA's ToS I would suggest that ToS11 be expanded to include offensive usernames. It does appear to allow splitting/cutting (at least for videos, and one would assume audio to).ītw the username "niga_in_da_block" is a terrible handle and I would say offensive to many. If I used ffmpeg everyday I'd seriously consider it. myFFmpeg - this is not free (free trail available), but if you were willing to spend a little money on it I dare say it's a winner and would do all you need. And keeping on topic, it doesn't appear to allow splitting/cutting unless you use the custom command option.Ģ. but then that negates niga_in_da_block's desire for exclusive GUI functionality. Avanti GUI - free and allows custom commands to be entered that would in theory allow full use of ffmpeg. But then I decided to have a play with it and rather enjoyed figuring out the various commands and if I could then create script files to make it easier for me.Īnyway, I found these two (NOT tested by me at all:ġ. I never even thought to look for a GUI when I started out using ffmpeg ~2 years ago. and I'm certainly no techie/coding "guru". bat afterwards.sadly, you're probably correct. Oh, maybe Windows will even need you to manually rename it to. Quote from: Porcus on 09:26:29 I think most users even need to get explained the "copy this into notepad, save it as opuscutter.bat and then doubleclick it" thing. :: pause can be used to view the extraction details Ensure you are running an up to date ffmpeg versionįOR %%f IN ("*.opus") DO %vffmpeg% -i "%%f" -ss %vStart% -to %vEnd% -map 0:a -c copy "split-opus\%%~nf.opus" :: Please note: -hide_banner will suppress printing the banner info. ![]() :: call ffmpeg to split/crop (copy) out the audio using -ss (start time) & -to (end time) (-t ) :: set this variable to Start Time minus 1 second for the fastest seek timeĮCHO ffmpeg will now split the file starting at %vStart% seconds and ending at %vEnd% seconds. :: convert Start & End input time to seconds :: Ask for the user to enter the Start & End times in hours, minutes, secondsĮcho ** Enter Start Time of where to begin split in hh mm ss.mmm format when prompted **Įcho ** Enter End Time of where to end split in hh mm ss.mmm format when prompted ** SET vffmpeg="C:\Program Files (x86)\ffmpeg\bin\ffmpeg.exe" :: set location of ffmpeg ** CHANGE ME ** :: set name of the parent directory where this script resides :: set name of this script without file extension SETLOCAL ENABLEEXTENSIONS ENABLEDELAYEDEXPANSION :: Purpose: Configures ffmpeg to losslessly split/crop an opus file Just remember, this trouble must bear stakes high enough to carry the entire novel. In a romance novel, it could mean a young woman must decide between two equally qualified suitors-and then her choice is revealed a disaster. For a thriller it might be a life or death situation. The terrible trouble depends on your genre, but in short it’s the worst possible dilemma you can think of for your main character. ![]() Plunge your main character into terrible trouble as soon as possible. But, even we Pantsers need a basic idea where we’re headed. If, like me, you’re not an Outliner but write by the seat of your pants (we call ourselves Pantsers), don’t panic-this is just a basic structure, not an outline. It has informed every novel I’ve written since, and several have sold in the tens of millions. I immersed myself in this book in the 1980s, and my writing has never been the same. Plot Development SecretsĪsk yourself two questions: Is your story idea weighty enough to warrant 75,000 to 100,000 words, and Is it powerful enough to hold the reader to the end?ĭiscovering novelist Dean Koontz’s Classic Story Structure (in his How to Write Best-Selling Fiction) was the best thing that ever happened to my career. Regardless which basic plot you choose, your goal should be to grab your reader by the throat from the get-go and never let go. Examples: A Prayer for Owen Meany, The Red Badge of Courage, To Kill a Mockingbird, The Odyssey, The Green Mile, Charlotte’s Web, Schindler’s List. The lead may not be aware of his own heroism until he rises to the occasion. Gift: An ordinary person sacrifices to aid someone else. Examples: The Great Gatsby, Catch-22, Charlie and the Chocolate Factory, Treasure Island, Chariots of Fire, The Pursuit of Happyness, The Devil Wears Prada.ħ. Race: Characters chase wealth or fame but must overcome others to succeed. Examples: The Green Mile, Shawshank Redemption, Riven, A Christmas Carol, Les Miserables, The Scarlet Letter, Of Mice and Men, The Hobbit, MacBeth, The Pearl, Oliver Twist, The Secret Life of Bees, Animal Farm.Ħ. ![]() He grows from discovering things about himself. Lure: A person must decide whether to give in to temptation, revenge, rage, or some other passion. Examples: Indiana Jones, Finding Nemo, The Color Purple, To Kill a Mockingbird, Left Behind.ĥ. Mistake: An innocent person caught in a situation he doesn’t understand must overcome foes and dodge dangers he never expected. ![]() Examples: Sense and Sensibility, Titanic, The Fault in Our Stars, The Notebook, Wuthering Heights, Water for Elephants, Redeeming Love.Ĥ. Romance: Jealousy and misunderstandings threaten lovers’ happiness. Examples: Alice’s Adventures in Wonderland, Great Expectations, Beauty and the Beast, A Little Princess, Don Quixote, Moby Dick, The Wonderful Wizard of Oz, The Lord of the Rings.ģ. ![]() Change: A person undergoes a dramatic transformation. Examples: Harry Potter, The Adventures of Huckleberry Finn, The Chronicles of Narnia, Gulliver’s Travels, The Secret Life of Walter Mitty.Ģ. Adventure: A person goes to new places, tries new things, and faces myrid obstacles. While stories seem limitless, most plots fall into these categories:ġ. They may remember the plot, but they should chew on the theme. Ideally your readers think for days about your theme. My Theme ties the stories together: The extent of forgiveness for even the most heinous crime.Ĭan Thomas forgive those who’ve treated him so shabbily that his own daughter has abandoned her faith?Ĭan Brady Darby be forgiven for the ultimate mortal sin? Their lives initially play out in separate settings, but eventually their stories intersect. Think of Plot as the engine of your novel.Ī successful story answers two questions:įor example, my novel Riven has two lead characters-Brady Wayne Darby (a no-account loser from a broken home) and Thomas Carey (a struggling small church pastor). It’s what compels your reader to either keep turning pages or set your book aside. Plot is the sequence of events that makes up your story. Need help writing your novel? Click here to download my ultimate 12-step guide. |
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