作者: Gujral, Madhusudan ; Arranz, Maria J ; Maihofer, Adam X ; Hong, Oanh ; Corsello, Christina ; Klein, Marieke ; Sebat, Jonathan ; Carey, Caitlin E ; Guevara, James ; Gleeson, Joseph G ; Courchesne, Eric ; Robinson, Elise B ; Grove, Jakob ; Nievergelt, Caroline M ; Antaki, Danny ; Pierce, Karen ; Iakoucheva, Lilia M ; Hervas, Amaia ; Muotri, Alysson R ; Vaux, Keith K

The genetic etiology of autism spectrum disorder (ASD) is multifactorial, but how combinations of genetic factors determine risk is unclear. In a large family sample, we show that genetic loads of rare and polygenic risk are inversely correlated in cases and greater in females than in males, consistent with a liability threshold that differs by sex. De novo mutations (DNMs), rare inherited variants and polygenic scores were associated with various dimensions of symptom severity in children and parents. Parental age effects on risk for ASD in offspring were attributable to a combination of genetic mechanisms, including DNMs that accumulate in the paternal germline and inherited risk that influences behavior in parents. Genes implicated by rare variants were enriched in excitatory and inhibitory neurons compared with genes implicated by common variants. Our results suggest that a phenotypic spectrum of ASD is attributable to a spectrum of genetic factors that impact different neurodevelopmental processes.

2022-08-01·Nature genetics1区 · 生物学

Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

1区 · 生物学

作者: Gujral, Madhusudan ; Arranz, Maria J ; Maihofer, Adam X ; Hong, Oanh ; Corsello, Christina ; Klein, Marieke ; Sebat, Jonathan ; Carey, Caitlin E ; Guevara, James ; Gleeson, Joseph G ; Robinson, Elise B ; Courchesne, Eric ; Grove, Jakob ; Nievergelt, Caroline M ; Antaki, Danny ; Pierce, Karen ; Hervas, Amaia ; Iakoucheva, Lilia M ; Muotri, Alysson R ; Vaux, Keith K

2021-06-01·Computerized medical imaging and graphics : the official journal of the Computerized Medical Imaging Society2区 · 工程技术

Towards radiologist-level cancer risk assessment in CT lung screening using deep learning

2区 · 工程技术

Article

作者: Tahmasebi, Amir ; Regis, Shawn M ; MacMahon, Heber ; Veeling, Bastiaan S ; Wiemker, Rafael ; Wald, Christoph ; Gebre, Binyam Gebrekidan ; Mavroeidis, Dimitrios ; Pien, Homer ; McKee, Brady J ; Klinder, Tobias ; Trajanovski, Stojan ; Swisher, Christine Leon ; Flacke, Sebastian

PURPOSE:

Lung cancer is the leading cause of cancer mortality in the US, responsible for more deaths than breast, prostate, colon and pancreas cancer combined and large population studies have indicated that low-dose computed tomography (CT) screening of the chest can significantly reduce this death rate. Recently, the usefulness of Deep Learning (DL) models for lung cancer risk assessment has been demonstrated. However, in many cases model performances are evaluated on small/medium size test sets, thus not providing strong model generalization and stability guarantees which are necessary for clinical adoption. In this work, our goal is to contribute towards clinical adoption by investigating a deep learning framework on larger and heterogeneous datasets while also comparing to state-of-the-art models.

METHODS:

Three low-dose CT lung cancer screening datasets were used: National Lung Screening Trial (NLST, n = 3410), Lahey Hospital and Medical Center (LHMC, n = 3154) data, Kaggle competition data (from both stages, n = 1397 + 505) and the University of Chicago data (UCM, a subset of NLST, annotated by radiologists, n = 132). At the first stage, our framework employs a nodule detector; while in the second stage, we use both the image context around the nodules and nodule features as inputs to a neural network that estimates the malignancy risk for the entire CT scan. We trained our algorithm on a part of the NLST dataset, and validated it on the other datasets. Special care was taken to ensure there was no patient overlap between the train and validation sets.

RESULTS AND CONCLUSIONS:

The proposed deep learning model is shown to: (a) generalize well across all three data sets, achieving AUC between 86% to 94%, with our external test-set (LHMC) being at least twice as large compared to other works; (b) have better performance than the widely accepted PanCan Risk Model, achieving 6 and 9% better AUC score in our two test sets; (c) have improved performance compared to the state-of-the-art represented by the winners of the Kaggle Data Science Bowl 2017 competition on lung cancer screening; (d) have comparable performance to radiologists in estimating cancer risk at a patient level.

项与 Human Longevity, Inc. 相关的新闻（医药）

2025-05-07

·循因缉药

HLI选定的胰腺癌早筛产品是个啥？

视野，深度视角各位亲爱的股东，大家早上好中午好晚上好！星球首发，加入方法如下。小编在这里！星球在这里！2025年5月6日，HLI（Human Longevity Inc，人类长寿公司）发了个新闻，选定了来自ClearNote Health的Avantect胰腺癌早筛技术作为自己的供应商。这家公司为啥能脱颖而出受到HLI的青睐呢？为啥不选GRAIL呢？人家还是多癌早筛呢。我们先看下，是不是因为产品太优秀不得不选？从技术路线上来看，Avantect是基于甲基化测序的一种检测，起始样本为cfDNA。文库构建完成后，一部分进行WGS全基因组测序，一部分进行靶向甲基化测序。然后通过机器学习的方法进行分类，区分出高低风险人群。在此前的研究当中，ClearNote选了132个胰腺癌和528个非癌症受试者作为训练集，102个胰腺癌患者和非癌症受试者作为验证集。还包括其他癌症受试者1524例，IPMN（胰腺导管内乳头状黏液性肿瘤）74例。呈现出来的性能是66.7%的总体敏感性，96.9%的特异性。可是GRAIL Galleri的胰腺癌敏感性是83.7%啊...Why baby，Why...也许，不负责任的瞎猜的话，可能是因为辣个男人...（我瞎猜哈）对，就是Stephen Quake，斯坦福教授，Helicos Bioscience创始人，tSMS发明人，用tSMS测序技术测自己基因组的第一人。SomaLogic（的董事会成员，CZ BioHub的联席总裁，Verinata（后被Illumina收购）、Fluidigm（纳斯达克上市）、CareDx（纳斯达克上市）、Lemelson-MIT奖获得者~顺带，ClearNote创始人。所以，你说，美帝有没有所谓的学术门阀呢？

并购

2025-05-06

·PRNewswire

Human Longevity, Inc., Expands Cancer Prevention Offering by Selecting the ClearNote Health Avantect® Early Detection Pancreatic Cancer Test

Combining whole genome sequencing, epigenomic analysis with advanced MRI to identify cancer earlier than ever before SOUTH SAN FRANCISCO, Calif., May 6, 2025 /PRNewswire/ -- Human Longevity, Inc. (HLI), the global leader in precision health and longevity medicine, today announced the expansion of its cancer prevention portfolio with the addition of the ClearNote Health Avantect® Pancreatic Cancer Test for its executive health and longevity care clients. This groundbreaking DNA-based blood test is designed to detect early-stage pancreatic cancer. When integrated with HLI's proprietary whole genome sequencing platform and cutting-edge MRI imaging, it offers one of the most advanced early cancer detection strategies available today. Pancreatic cancer is notoriously difficult to detect in its earliest stages, when interventions are most effective. Human Longevity's comprehensive, multimodal approach is designed to change that. "Our mission is to detect disease before it becomes life-threatening," said Dr. Wei-Wu He, Executive Chairman of Human Longevity. "Pancreatic cancer has historically been extremely challenging to catch early enough to make a difference for patients. By combining Avantect's cutting-edge cell-free DNA technology with our high-resolution imaging and deep genomic analysis, we are moving closer to making early detection—and prevention—a reality." A New Standard for Early Detection Developed by ClearNote Health, the Avantect test analyzes subtle epigenomic changes—specifically, 5-hydroxymethylcytosine (5hmC) markers—in cell-free DNA from a simple blood draw. The test is intended for use with patients at high-risk of pancreatic cancer, including those newly diagnosed with type 2 diabetes who are at least 50 years old, as well as those with a relevant family history and/or a genetic predisposition. The test demonstrated 68.3% sensitivity and 96.9% specificity for early-stage disease.1 HLI further enhances early detection with comprehensive whole genome sequencing, analyzing more than 3 billion base pairs per patient to uncover genetic predispositions and early structural changes. Coupled with HLI's state-of-the-art MRI imaging—optimized with dynamic contrast and diffusion sequences for pancreatic visualization—clients receive the most thorough early cancer testing available. "When genomics, epigenomics, and imaging work together, we dramatically improve our ability to detect cancer early—giving our clients the best chance for intervention and cure," added Dr. He. David Mullarkey, CEO of ClearNote Health, commented: "We are proud to join forces with Human Longevity to deliver the Avantect test to clients who are deeply invested in proactive health management. By integrating our epigenomic innovation with HLI's world-class genomic and imaging capabilities, we are redefining what is possible in early pancreatic cancer detection—and giving individuals a greater opportunity to change their future." Who Will Benefit The Avantect Pancreatic Cancer Test will initially be available to HLI's executive health clients, many of whom are already engaged in comprehensive wellness programs targeting cardiovascular, metabolic, neurologic, and oncologic risks. Priority will be given to individuals at elevated risk, including those with new-onset diabetes, BRCA2 mutations, or a family history of pancreatic cancer. This expansion is part of Human Longevity's broader commitment to proactive health and the early detection of preventable diseases, including its landmark $1 million pledge to any client who develops late-stage prostate cancer while under continuous HLI care. A Future of Healthier, Longer Lives Human Longevity's vision is simple yet profound: empower individuals with the information and tools to prevent disease before symptoms ever arise. The addition of the Avantect test is a major step forward in realizing that mission. "Precision medicine is only powerful when applied early," said Dr. He. "Our clients come to us because they want to know what's coming—not after it happens, but before. With this integrated testing platform, we're giving them exactly that." Contact Visit . Human Longevity, Inc. Built by the pioneers of the human genome sequencing effort since 2013, Human Longevity is the global leader in advancing the Human Longevity Care movement, on a mission to discover and harness the technological and biological interventions that amplify span of life, health, & high-performance. Human Longevity, Inc. is committed to accelerating living to 100+ by revolutionizing the landscape of the current system of "sickcare" to true "healthcare". By continually adding and analyzing our client's health data, we are transforming treatment from a reactive practice to one that is proactive, preventative, and personalized. For more information, visit 1Haan, D. et al. Epigenomic Blood-Based Early Detection of Pancreatic Cancer Employing Cell-Free DNA. Clinical Gastroenterology and Hepatology. 2023 July;21(7):1802-1809. doi: . SOURCE Human Longevity, Inc. WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED

2025-03-23

·循因缉药

Human Longevity|为什么同样的事他们说就显得这么高级？

环球视野，深度视角知识星球首发各位亲爱的股东，大家早上好中午好晚上好。今天是个很厉害的角色。 2025年3月20日，Human Longevity（HLI）宣布将向每位被诊断出患有晚期前列腺癌的合格会员提供高达100万美元的治疗费用。刚一看，想喊牛X；仔细一看，擦~这不是个类保险的套路嘛？！不是，哥们，这同样的事怎么你们说起来这么高级？呃，不就是相当于个类保险么...风险归类之后排除高风险人群，然后赔付给小概率事件... 事实上，HLI似乎也是这么干的。 HLI利用基因组学、先进成像技术和全面的纵向血液生物标志物跟踪，为超过5000名男性提供护理，开发出了先进的早期前列腺癌检测算法。尽管大多数会员有望在可治愈阶段发现前列腺癌，但HLI为晚期诊断的会员提供了100万美元的资助，确保他们能够获得最佳护理，无需担心财务或后勤问题。等等，你是说他叫Human Longevity？那就合理了。这时候CEO们就要问了，你快说说怎么拿到这100万美元。呃，哥，为了这一百万刀咱不至于得个前列腺癌吧... 但是，既然你诚心诚意的发问了，那咱们就来说道说道这家神奇的公司。 #01 牛人往事 2013年，Human Longevity在美国加州San Diego宣告成立。根据Wiki的资料，创始人分别是J. Craig Venter、 Peter Diamandis,和Robert J. Hariri。（虽然今天不是主角，中间那个“龙王”也是狠人，有兴趣的自行百度）别的人，你可以不知道，但是Craig Venter必须是钉死在脑子里的一个名字。他，就是那个一人挑战整个人类基因组计划的男人。 1990年10月，国际人类基因组计划（HGP）启动，美、英、日、法、德、中六国相继加入其中，按最初的设想，该项目将耗资30亿美元，预计在 2005 年完成全人类基因组的测序工作。然而，Craig Venter在1998年成立了大名鼎鼎的Celera Genomics塞莱拉公司。 Craig Venter宣称要在3年内完成人类基因组的序列测定，目的是抢在“国际人类基因组计划”前完成，以便将人类基因组图谱申请成专利，靠垄断人类基因组信息来谋利。这迫使HGP发表声明全说部基因测序工作将比原计划提前两年，即在2003年完成。 2000年4月6日，塞莱拉公司突然宣布完成了基因测序工作。不过，在塞莱拉制霸人类基因组这件事上，Craig Venter遇上了另外两个男人：Francis Collins和Bill Clinton。这一结果却遭到了时任美国国家人类基因组研究所所长弗朗西斯·科林斯（Francis Collins）的质疑。然而，Craig Venter还是给HGP造成了巨大的压力，迫使HGP再发表声明说全部基因测序工作将于2001年完成。 2000年3月14日，英美两大巨头联合宣布将吧基因组数据向全世界免费公开，Craig Venter图谋遇阻。随后，由Francis Collins提议，并在美国总统Bill Clinton的亲自过问下，公私人类基因组测序部门达成和解。自此，Craig Venter过上了富有且枯燥的生活。那么，有钱人最想要什么呢？长生不老！于是，Human Longevity诞生了。 #02 鼻祖现在咱们提起多组学，平常了很多。但是，在HLI成立的时候，这可是新鲜事。可人家HLI有钱啊。 2016年，HLI的B轮融资随便就拿到了Illumina Ventures领投的2.2亿美元。呃，别问为啥后面还是B轮，人家就是这么任性。 Anyway，拿到Illumina的投资必然就是上测序啊。 2020年，HLI在PNAS上发表了自家基于全基因组测序和MRI、心电、代谢组等多学科、多组学的研究结果。结果是什么不重要，重要的是HLI向全世界的富人们传达出一个信息：我这里有最牛X的基数，想长生不老找我就对了。大家有没有发现，基因组+代谢组各种组+各种身体特征数据看起来怎么就这么眼熟呢... （华大基因13311i）没错，HL就是这种所谓多维精准健康的鼻祖。每年只要8000美元，这么多检查项目，想想就划算。如果嫌便宜还有铂金会员，一年19000美元，其实也不贵。当然，HLI还有单独收费项目，不然那些有钱人早就不干了。 “我以为这么高端高低得收十万八万，结果你这要饭呢？” 有意思的是，HLI早在2020年就把自家的肿瘤部门卖给了NeoGenomics，作价3700万美元。看来，肿瘤早筛并没有出售，不然前列腺癌这项目是没办法推出的。 #03 最后你看，同样一个事，咱们如果去做就是只能随着保单搭着赚点辛苦钱。 HLI干直接就是高举高打，还整的挺高大上。你要说这里面没有创始人Craig Venter的光环效应，我是不信的。然而，2018年HLI却把Craig告上法庭。 HLI指控Venter在离职后使用公司电脑与公众沟通，招揽投资者和员工，并试图创建HLI的竞争对手，同时窃取商业机密。不过，时至今日，Craig的宣传片依然放在HLI的醒目位置。显然，还是不想浪费这块金字招牌。 END 找小编，扫这里！至此，各位股东星标了么？点赞了么？转发了么？在看了么？谢谢！所有内容均不作为投资建议，信息均来自公开资料，星球更新更快。近期文章：赛纳S200测序仪发布你倒是吱一声啊！ Akoya：2024Q4多少有点潦草哇！25万例全基因组数据上新！ Quanterix大股东急眼了美国国立人类基因组研究所主任离职药明康德：美国收入占比首降相关资料：注1：https://www.nanalyze.com/2014/03/live-longer-with-human-longevity/注2：https://ir.neogenomics.com/news-events/press-releases/detail/132/neogenomics-acquires-oncology-division-from-human-longevity注3：https://www.fiercebiotech.com/biotech/human-longevity-accuses-j-craig-venter-stealing-secrets

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