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

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 ; Sebat, Jonathan ; Klein, Marieke ; Carey, Caitlin E ; Guevara, James ; Gleeson, Joseph G ; Courchesne, Eric ; Robinson, Elise B ; 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 ; Wiemker, Rafael ; Veeling, Bastiaan S ; MacMahon, Heber ; Wald, Christoph ; Gebre, Binyam Gebrekidan ; Mavroeidis, Dimitrios ; McKee, Brady J ; Pien, Homer ; 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）

2025-08-25

·PRNewswire

Human Longevity Taps Alamar Biosciences to Power Proteomic Innovation in Longevity Research

SOUTH SAN FRANCISCO, Calif., Aug. 25, 2025 /PRNewswire/ -- Human Longevity, Inc. (HLI), a global leader in precision health and longevity care, today announced a strategic collaboration with Alamar Biosciences, Inc., a company powering precision proteomics to enable the earliest detection of disease, to launch novel proteomic testing services designed to advance the science of human longevity. Human Longevity will incorporate two of Alamar's NULISAseq™ multiplexed panels that profile human inflammation and neurological health into its service offering. NULISAseq Inflammation Panel 250 – provides precise detection and monitoring of chronic inflammation, a central driver of aging and multiple age-related diseases. NULISAseq CNS Disease Panel 120 – enables early detection and monitoring of key biomarkers involved in neurodegenerative and neurological disorders, aiming to provide unprecedented insights into brain health and resilience. By leveraging Alamar's ultra-high sensitivity proteomics platform, NULISA™, and HLI's decade of experience in integrating genomics, imaging, and multi-omics data from over 10,000 clients, clinicians and researchers will gain access to powerful new tools to measure biological processes that directly impact healthspan and lifespan. "Proteomics is the next frontier in longevity medicine. By adding high-resolution protein measurements to our existing genomics and imaging platform, we are moving closer to truly predictive and preventive healthcare," said Wei-Wu He, Ph.D., Executive Chairman of Human Longevity, Inc. "Our collaboration with Alamar allows us to bring cutting-edge science directly into clinical practice for the benefit of our clients." "We're proud to collaborate with Human Longevity to help advance the science of healthy aging," said Yuling Luo, PhD, Founder, Chairman and CEO of Alamar Biosciences. "It's incredibly meaningful that a trailblazer in longevity research has chosen our precision proteomics platform to drive real-world applications that support longer, healthier lives." The panels will be integrated into HLI's Executive Health and 100+ Longevity precision health programs later this year, with initial availability to HLI members. This initiative underscores the commitment of both companies to advance longevity science through AI, multi-omics, and next-generation diagnostics. About Human Longevity, Inc. Founded in 2013, Human Longevity, Inc. is a biotechnology company at the forefront of integrating genomics, AI, and multimodal diagnostics to extend human healthspan. Through its flagship Executive Health Program and 100+ Longevity Programs, HLI delivers comprehensive, data-driven evaluations aimed at identifying and preventing disease long before symptoms arise. To learn more or how to enroll, visit . About Alamar Biosciences, Inc. Alamar Biosciences is a privately held life sciences company with a mission to power precision proteomics to enable the earliest detection of disease. The company's proprietary NULISA™ Platform along with the ARGO™ HT System work seamlessly with the latest advances in genomics to achieve single digit attomolar detection sensitivity, greatly surpassing the most sensitive protein detection technology on the market today. For more information, please visit alamarbio.com Media Contact: [email protected] 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

2025-07-31

·PRNewswire

Human Longevity Extends $1M Cancer Pledge to Lung Cancer--Betting Big on AI-Driven Early Detection

Company reiterates its precision prevention commitment with latest expansion of its high-stakes cancer pledge—now targeting lung cancer, the world's deadliest cancer. SOUTH SAN FRANCISCO, Calif., July 31, 2025 /PRNewswire/ -- In a bold move to challenge one of the deadliest cancers worldwide , Human Longevity, Inc. (HLI) is expanding its high-profile $1 million pledge to include late-stage lung cancer—sending a clear signal that precision prevention is not just a promise, but a guarantee. Reflecting HLI's unwavering belief in early detection and the power of precision diagnostics, this initiative will offer up to $1 million in clinical support for any qualified member diagnosed with late-stage lung cancer while actively participating in HLI's Executive Health Program or affiliated 100+ Longevity Programs. Through its Executive Health Program and 100+ Longevity Programs, Human Longevity has screened over 10,000 members using a comprehensive, AI-driven platform that integrates genomics, imaging, and longitudinal biomarker tracking . The addition of lung cancer to HLI's pledge program reinforces its commitment to detecting cancers earlier—when treatment is most effective. This precision strategy includes: Whole genome sequencing with hereditary cancer risk assessment Whole-body and volumetric MRI + other imaging testing Multi-cancer early detection (MCED) blood tests Continuous respiratory symptom and biomarker monitoring This integrated approach—offered exclusively through HLI's Executive Health Program —enables the detection of lung cancer earlier and with greater confidence, empowering members with proactive and personalized care. How the Initiative Works Eligible participants must be continuously enrolled in the Executive Health Program or 100+ Longevity Programs, and must complete our pledge and annual lung cancer-specific screenings, including MCED testing and clinical assessments, as part of their protocol. If a participating member is diagnosed with late-stage lung cancer during active membership, HLI will provide up to $1 million in clinical navigation, treatment coordination, and consultation with top thoracic oncology experts . "With our integrated screening tools and AI - powered risk analysis , we're transforming how we detect and respond to life-threatening diseases like lung cancer," said Dr. Wei - Wu He , Executive Chairman of Human Longevity, Inc. "This pledge reinforces our promise to help our members stay ahead of disease and receive world-class care in every scenario." Lung cancer is the leading cause of cancer-related death globally, often diagnosed in later stages due to subtle or absent early symptoms. By combining advanced imaging, genomic insights, and real-time biomarker data, Human Longevity is redefining what's possible in early lung cancer detection and preventative care. This pledge is more than a commitment—it's a strategic expansion of Human Longevity's mission to shift healthcare from reactive to proactive. It ensures members benefit from the most advanced diagnostic tools, clinical pathways, and personalized care plans available today. Media Contact: [email protected] Human Longevity, Inc. is a biotechnology company at the forefront of integrating genomics, AI, and multimodal diagnostics to extend human healthspan. Through its flagship Executive Health Program and 100+ Longevity Programs, HLI delivers comprehensive, data-driven evaluations aimed at identifying and preventing disease long before symptoms arise. To learn more or how to enroll, visit . 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

2025-07-17

·PRNewswire

Human Longevity, Inc. Expands $1 Million Cancer Prevention Pledge to Safeguard Against Late-Stage Ovarian Cancer

New pledge underscores confidence in early detection, supported by the Avantect® Liquid Biopsy and HLI's Executive Health Program SOUTH SAN FRANCISCO, Calif., July 17, 2025 /PRNewswire/ -- Human Longevity, Inc. (HLI), a global leader in precision medicine and proactive healthcare, today announced the expansion of its $1 million cancer prevention pledge — now focused on late-stage ovarian cancer. Reflecting HLI's unwavering belief in early detection and the power of precision diagnostics, this bold initiative will offer up to $1 million in treatment and clinical support for any qualified member diagnosed with late-stage ovarian cancer while actively participating in HLI's Executive Health Program or affiliated 100+ Longevity Programs. Pioneering Early Detection with Avantect® Liquid Biopsy Through its Executive Health Program, Human Longevity has screened over 10,000 members using a comprehensive, AI-driven platform that integrates genomics, imaging, and biomarkers. This ovarian cancer prevention initiative will now incorporate the Avantect® Ovarian Cancer Liquid Biopsy — the first clinically validated blood test to detect early-stage ovarian cancer with high negative predictive value (NPV). By identifying tumor-derived cell-free DNA signals, the Avantect® test enhances HLI's multi-modal detection strategy. This precision strategy includes: Whole genome sequencing, including BRCA1/2 and other hereditary cancer-related genes Whole-body MRI with dedicated pelvic imaging Avantect® Ovarian Cancer Liquid Biopsy Multi-cancer early detection (MCED) blood tests Continuous symptom and biomarker monitoring This integrated approach—offered exclusively through HLI's Executive Health Program—allows Human Longevity to detect ovarian cancer earlier and with greater confidence, empowering women with better outcomes. How the Initiative Works Eligible participants must be continuously enrolled in the Executive Health Program or 100+ Longevity Programs, and must complete annual ovarian cancer-specific screenings, including the Avantect® liquid biopsy, as part of their clinical protocol. If a participating member is diagnosed with late-stage ovarian cancer during active membership, HLI will provide up to $1 million in treatment support, clinical navigation, and consultation with top gynecologic oncology experts. "Prevention is the future of medicine," said Dr. Wei-Wu He, Executive Chairman of Human Longevity, Inc. "With the Avantect® liquid biopsy in addition to our Executive Health Program, we are further strengthening our ability to catch cancer before it's too late. And in the rare case we miss something, our pledge ensures our members receive the best care in the world." Leading the Future of Women's Health Ovarian cancer is among the most lethal gynecologic cancers due to its late-stage diagnoses. By combining cutting-edge tools like Avantect®, advanced imaging, and AI-enabled analytics within the Executive Health Program, Human Longevity is redefining what's possible in women's health and cancer prevention. This pledge is more than a financial commitment—it's a call to action for precision prevention. It reflects HLI's mission to radically shift healthcare from reactive to proactive, ensuring its members benefit from the most advanced tools available. About Human Longevity, Inc. Human Longevity, Inc. is a biotechnology company at the forefront of integrating genomics, AI, and multimodal diagnostics to extend human healthspan. Through its flagship Executive Health Program and 100+ Longevity Programs, HLI delivers comprehensive, data-driven evaluations aimed at identifying and preventing disease long before symptoms arise. To learn more or how to enroll, visit or . Media Contact: [email protected] 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

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