Nephi Walton

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Nephi Walton

Nephi Walton

@geneticks

Clinical Geneticist, Bioinformaticist, Recovering Programmer, Writer, Science Lover, Anatomical Oddities, Nerd, Dad, @WakeForest, Opinions are my own

Utah, USA เข้าร่วม Mayıs 2010
249 กำลังติดตาม159 ผู้ติดตาม
Nephi Walton
Nephi Walton@geneticks·
I should add, that I was so impressed that I ended up buying one two weeks later and we used it for the project. FSD has been great for me too. I actually just relax and communicate with Grok about genetic conditions I am seeing as the car is driving me to work. Driving is much less painful than it used to be. My thought was that if they approved her to drive with FSD that I would hand over the keys, but she might have to get her own Tesla (with some help).
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Nephi Walton
Nephi Walton@geneticks·
I think the use of FSD for people with disabilities has tremendous potential. Nearly 3 years ago, we discovered my daughter had epilepsy, she has not had a tonic clonic seizure since but continues to have small myoclonic jerks of her hands once or twice a day that last less than 2 seconds. These can be embarrassing and she drops things occasionally when this happens. As she is 15 and turning 16 soon, the biggest questions she has had at each appointment is "when can I drive". After an appointment in December she was very discouraged with no answer as to when she could drive. To lighten her mood I took her to a Tesla dealership and we test drove FSD (technically the car drove the whole time). This made her extremely happy as she could see that some day regardless of her seizure control she would be able to drive. This inspired her entry into the Presidential AI competition for which her team won in the state of Utah. She thinks, and I agree, that FSD could be prescribed by clinicians to help people with epilepsy like hers gain independence today, but could be even better if other features were integrated into Tesla’s internal camera system. @Tesla and @elonmusk would love to have your thoughts on this. She is going to continue working on this even if she does not win regionals, because it is extremely important to her.
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X Freeze
X Freeze@XFreeze·
Grok and Tesla FSD are literally saving lives Here are the two real live stories from 2026: ➝ A man had a massive heart attack driving. His son remotely activated FSD, set hospital as destination...the car got him there safely as he collapsed. Every second counted ➝ Another man endured 24 hours of severe pain. He described his symptoms to Grok, who immediately flagged a near-ruptured appendix and urged him to go back for a CT scan. The scan confirmed it; emergency. Surgery removed the appendix just in time Elon: "Upload X-rays/MRIs to Grok....it diagnoses better than some docs. FSD saves lives in emergencies, driving you to hospital" Tesla’s Full Self-Driving and Grok are already saving real human lives
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Nephi Walton
Nephi Walton@geneticks·
Nearly 3 years ago, we discovered my daughter had epilepsy, she has not had a tonic clonic seizure since but continues to have small myoclonic jerks of her hands once or twice a day that last less than 2 seconds. These can be embarrassing and she drops things occasionally when this happens. As she is 15 and turning 16 soon, the biggest questions she has had at each appointment is "when can I drive". After an appointment in December she was very discouraged with no answer as to when she could drive. To lighten her mood I took her to a Tesla dealership and we test drove FSD (technically the car drove the whole time). This made her extremely happy as she could see that some day regardless of her seizure control she would be able to drive. This inspired her entry into the Presidential AI competition for which her team won in the state of Utah. She thinks, and I agree, that FSD could be prescribed by clinicians to help people with epilepsy like hers gain independence today, but could be even better if other features were integrated into Tesla’s internal camera system. @Tesla and @elonmusk would love to have your thoughts on this. She is going to continue working on this even if she does not win regionals, because it is extremely important to her.
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Nephi Walton
Nephi Walton@geneticks·
My daughter animating her Easter eggs with Grok Imagine
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Nephi Walton
Nephi Walton@geneticks·
Witnesses Testify on FDA Regulations and Innovation c-span.org/program/senate… As a clinician who cares for patients with these disorders, I am deeply troubled by recent FDA actions. While there has been some encouraging news, it has not translated into meaningful progress. Many of these patients—particularly those with spinocerebellar ataxia—are losing function every day that they will never regain, even as therapies with demonstrated positive effects exist but remain out of reach. This is not a political issue. It is profoundly frustrating to watch patients deteriorate rapidly when a potentially beneficial intervention exists, yet incomprehensible regulatory barriers continue to delay access.
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Nephi Walton
Nephi Walton@geneticks·
Grok is very good. I’m a clinical geneticist and I’m seeing more and more patients come up with correct diagnoses using LLM’s. In several cases they are trying to get genetic testing from a specialist who brushes them off. For those, it’s making them lose faith in the medical system when they feel they have more information than their provider. We have to embrace AI as clinicians or risk losing the trust of our patients. For my field it’s impossible for me to memorize the 10,000 plus diagnoses I see. For a computer this is trivial. Physicians still have value exceeding LLM’s for patient care, but we need to recognize with humility where AI beats us and utilize it rather than shun it, anyone who doesn’t will become obsolete.
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Nephi Walton
Nephi Walton@geneticks·
Great perspective on AI in education.
Andrej Karpathy@karpathy

A number of people are talking about implications of AI to schools. I spoke about some of my thoughts to a school board earlier, some highlights: 1. You will never be able to detect the use of AI in homework. Full stop. All "detectors" of AI imo don't really work, can be defeated in various ways, and are in principle doomed to fail. You have to assume that any work done outside classroom has used AI. 2. Therefore, the majority of grading has to shift to in-class work (instead of at-home assignments), in settings where teachers can physically monitor students. The students remain motivated to learn how to solve problems without AI because they know they will be evaluated without it in class later. 3. We want students to be able to use AI, it is here to stay and it is extremely powerful, but we also don't want students to be naked in the world without it. Using the calculator as an example of a historically disruptive technology, school teaches you how to do all the basic math & arithmetic so that you can in principle do it by hand, even if calculators are pervasive and greatly speed up work in practical settings. In addition, you understand what it's doing for you, so should it give you a wrong answer (e.g. you mistyped "prompt"), you should be able to notice it, gut check it, verify it in some other way, etc. The verification ability is especially important in the case of AI, which is presently a lot more fallible in a great variety of ways compared to calculators. 4. A lot of the evaluation settings remain at teacher's discretion and involve a creative design space of no tools, cheatsheets, open book, provided AI responses, direct internet/AI access, etc. TLDR the goal is that the students are proficient in the use of AI, but can also exist without it, and imo the only way to get there is to flip classes around and move the majority of testing to in class settings.

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Nephi Walton
Nephi Walton@geneticks·
The next innovation that will really impress me is adding the ability to add future alarms. Something users have asked for since 2013 and @Apple has ignored. Two people I know have switched to android just because of this and I’m seriously considering it. Android has done this for a long time.
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Apple
Apple@Apple·
The wait is over. Introducing the new iPhone 17 Pro, iPhone Air, iPhone 17, Apple Watch Ultra 3, Apple Watch Series 11, Apple Watch SE 3, AirPods Pro 3, and more.
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Nephi Walton
Nephi Walton@geneticks·
I wouldn’t brag about this @Uber AI support is the worst I’ve encountered to date. Just came out of an AI conference, experienced Ubers ai chatbot firsthand. After a ride never showed up and still charged me I spent 30 minutes dealing with the worst AI chatbot I’ve ever encountered and switched to @lyft. It’s bad examples like this that will give people bad impressions of the true potential of ai. Came out of this conference with so much excitement for ai then get slapped in the face with this horrible real world example. AI is not magic, still have some work to do, at least @uber does. My expectation is that it shouldn’t take 30 minutes to communicate that my driver never showed up and I never got in a ride I’m being charged for. I don’t think that’s too high of an expectation
Firebolt@FireboltHQ

This time on the Data Engineering Show: Paarth Chothani from @Uber shares how they're innovating on-call support with AI 🤖 Highlights: 🔹How Uber built Genie to tackle the universal pain of on-call support 🔹The brilliant progression from basic documentation assistant to automated problem-solver 🔹Real examples of AI agents working together to resolve complex issues Tune in: firebolt.io/blog/building-… Spotify: bit.ly/4nZd6wE #AI #dataengineering #podcast

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Nephi Walton
Nephi Walton@geneticks·
@FireboltHQ @Uber @Uber AI support is the worst I’ve encountered to date. Just came out of an AI conference, experienced Ubers ai chatbot firsthand. After a ride never showed up and still charged me I spent 30 minutes dealing with the worst AI chatbot I’ve ever encountered and switched to @lyft
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Firebolt
Firebolt@FireboltHQ·
This time on the Data Engineering Show: Paarth Chothani from @Uber shares how they're innovating on-call support with AI 🤖 Highlights: 🔹How Uber built Genie to tackle the universal pain of on-call support 🔹The brilliant progression from basic documentation assistant to automated problem-solver 🔹Real examples of AI agents working together to resolve complex issues Tune in: firebolt.io/blog/building-… Spotify: bit.ly/4nZd6wE #AI #dataengineering #podcast
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Nephi Walton
Nephi Walton@geneticks·
Great panel on AI and the patient experience. Discussed using AI to make visits more efficient to address physician burnout. I have a feeling that health systems will pay for AI to increase efficiency and then increase patient volumes, therefore sustaining burnout. Thoughts?
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Nephi Walton
Nephi Walton@geneticks·
Such an exciting time. Looking forward to today’s sessions. Ai4
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Nephi Walton รีทวีตแล้ว
Michael Baym
Michael Baym@baym·
I will never understand why statisticians say “Type I error” and Type II error” when false positive and false negative are the same number of syllables and self-defining
Joachim Schork@JoachimSchork

Understanding Type I and Type II errors is the secret to unlocking the full potential of your statistical analysis. These errors are pivotal in hypothesis testing, where Type I errors represent false positives (incorrectly rejecting a true null hypothesis) and Type II errors represent false negatives (failing to reject a false null hypothesis). Handling these errors effectively can greatly improve the accuracy and credibility of your analyses. By meticulously managing these errors, you can ensure your statistical conclusions are both reliable and valid, ultimately leading to more trustworthy and impactful research findings. Cons of Mismanaging Type I and Type II Errors: ❌ Misleading Results: High rates of Type I errors can result in false claims of significance, leading to incorrect conclusions. ❌ Missed Discoveries: Excessive Type II errors can cause important findings to be overlooked, as genuine effects are dismissed as insignificant. ❌ Reduced Trust: Frequent errors undermine the credibility of your analysis, leading to mistrust in your results and decisions. Pros of Effectively Managing Type I and Type II Errors: ✔️ Minimized False Positives: By carefully setting thresholds, you can reduce the number of false positives, ensuring that positive results are genuinely significant. ✔️ Accurate Conclusions: Proper management of Type I and Type II errors helps draw more accurate conclusions from data, enhancing the overall validity of your study. ✔️ Improved Decision-Making: With fewer errors, the decisions based on your data will be more reliable and informed. To manage Type I and Type II errors effectively in practice: 🔹 R: Use the p.adjust function from the stats package to control for multiple comparisons and reduce Type I error rates. 🔹 Python: Utilize the statsmodels library, specifically the multipletests method, to adjust p-values and maintain control over error rates. The visualization originates from a wikipedia image (link: en.wikipedia.org/wiki/Type_I_an…) and shows the results of negative samples (left curve) overlapping with positive samples (right curve). Adjusting the cutoff value (vertical bar) helps balance false positives (FP) and false negatives (FN), impacting the rates of true positives (TP) and true negatives (TN). To explain this topic in further detail, I collaborated with Micha Gengenbach to create a comprehensive tutorial: statisticsglobe.com/type-i-and-typ… Eager to advance your skills in statistics and R programming? My online course, "Statistical Methods in R," might be ideal for you. More details are available at this link: statisticsglobe.com/online-course-… #statisticians #DataScience #DataAnalytics #RStudio #RStats #database

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Nephi Walton
Nephi Walton@geneticks·
Farewell to NHGRI, In 2023, I began my journey with NHGRI as a part-time contractor. Over time, my experience working alongside incredible colleagues led me to join full-time. However, being a remote worker and just one month shy of completing my probationary period, I was among the more vulnerable employees for the expected cuts. I opted for the deferred resignation program which turned out to be a wise decision. Before joining NHGRI, I must admit I held some misconceptions about government work. What I encountered, however, was a team of dedicated professionals—people who, in many cases, chose lower-paying roles to advance science. They cared deeply about their work, striving every day to make a meaningful impact. They were committed to supporting researchers, particularly early-career investigators, ensuring they had every opportunity to succeed. These were individuals who took genuine joy in others' successes, even knowing they’d receive little credit for their contributions. I have only positive things to say about NHGRI and can confidently attest to their careful stewardship of taxpayer dollars. Frankly, they could have used more funding. I have close relationships with people across the political spectrum, and while their perspectives may differ, I firmly believe that most people are good and want good things. Each side brings valuable viewpoints that, if combined, could complement each other. Shortly after the election, while flying from DC, I happened to sit across the aisle from a Republican senator. Amid concerns about my future, I asked about their perspective on NIH funding. While they couldn’t make promises, they assured me that NIH’s work was seen as critical and maintained strong bipartisan support. At the time, this gave me reassurance. And though recent events might suggest misplaced optimism, I still find comfort in that sentiment. Let me explain. I know this is a difficult time. Some truly great people have lost their jobs. My only solace is that their talent will ensure they find new opportunities. I still believe that support for science and innovation remains strong, regardless of political affiliation. There is broad recognition that many of the medical breakthroughs we benefit from today stem from NIH-funded research. The human drive to understand, to seek answers, is unyielding. Even through uncertainty, I trust that science will persevere. As for me, I’m setting out to explore my next chapter. I’ll find something—I’m not too worried about that. What concerns me more is the increasing polarization of our country. I hope for a future where we can sit down, engage in open conversations, disagree, and still appreciate the good in one another. We share far more common ground than we realize, and if there’s one area where unity is possible, it’s in our collective desire to improve human health. To my NHGRI colleagues—thank you. It has been an honor to work alongside you and I will always be grateful for the experience.
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Nephi Walton
Nephi Walton@geneticks·
As a clinical geneticist I am very impressed with Grok's ability to provide answers to medical questions and the way it lays out the pros and cons of complex medical decisions. I see patients with rare disorders and it's been very useful as a digital "second opinion" providing all the appropriate references, saving a significant amount of time (not hallucinating the references like ChatGPT). It's impossible to know everything about the 10,000 plus disorders we see as geneticists. Anyone who has not tried this tool should.
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