Objectives: The vast and complex nature of human genomic sequencing data presents challenges for effective analysis. This review aims to investigate the application of Natural Language Processing (NLP) techniques, particularly Large Language Models (LLMs) and transformer architectures, in deciphering genomic codes, focusing on tokenization, transformer models, and regulatory annotation prediction. The goal of this review is to assess data and model accessibility in the most recent literature, gaining a better understanding of the existing capabilities and constraints of these tools in processing genomic sequencing data. Methods: Following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, our scoping review was conducted across PubMed, Medline, Scopus, Web of Science, Embase, and ACM Digital Library. Studies were included if they focused on NLP methodologies applied to genomic sequencing data analysis, without restrictions on publication date or article type. Results: A total of 26 studies published between 2021 and April 2024 were selected for review. The review highlights that tokenization and transformer models enhance the processing and understanding of genomic data, with applications in predicting regulatory annotations like transcription-factor binding sites and chromatin accessibility. Discussion: The application of NLP and LLMs to genomic sequencing data interpretation is a promising field that can help streamline the processing of large-scale genomic data while also providing a better understanding of its complex structures. It has the potential to drive advancements in personalized medicine by offering more efficient and scalable solutions for genomic analysis. Further research is also needed to discuss and overcome current limitations, enhancing model transparency and applicability.

Large language models (LLMs) represent a transformative class of AI tools capable of revolutionizing various aspects of healthcare by generating human-like responses across diverse contexts and adapting to novel tasks following human instructions. Their potential application spans a broad range of medical tasks, such as clinical documentation, matching patients to clinical trials, and answering medical questions. In this primer paper, we propose an actionable guideline to help healthcare professionals more efficiently utilize LLMs in their work, along with a set of best practices. This approach consists of several main phases, including formulating the task, choosing LLMs, prompt engineering, fine-tuning, and deployment. We start with the discussion of critical considerations in identifying healthcare tasks that align with the core capabilities of LLMs and selecting models based on the selected task and data, performance requirements, and model interface. We then review the strategies, such as prompt engineering and fine-tuning, to adapt standard LLMs to specialized medical tasks. Deployment considerations, including regulatory compliance, ethical guidelines, and continuous monitoring for fairness and bias, are also discussed. By providing a structured step-by-step methodology, this tutorial aims to equip healthcare professionals with the tools necessary to effectively integrate LLMs into clinical practice, ensuring that these powerful technologies are applied in a safe, reliable, and impactful manner.

Recent studies have augmented large language models (LLMs) with speech capabilities, leading to the development of speech language models (SpeechLMs). Earlier SpeechLMs focused on single-turn speech-based question answering (QA), where user input comprised a speech context and a text question. More recent studies have extended this to multi-turn conversations, though they often require complex, multi-stage supervised fine-tuning (SFT) with diverse data. Another critical challenge with SpeechLMs is catastrophic forgetting-where models optimized for speech tasks suffer significant degradation in text-only performance. To mitigate these issues, we propose a novel single-stage joint speech-text SFT approach on the low-rank adaptation (LoRA) of the LLM backbone. Our joint SFT combines text-only SFT data with three types of speech-related data: speech recognition and translation, speech-based QA, and mixed-modal SFT. Compared to previous SpeechLMs with 7B or 13B parameters, our 3B model demonstrates superior performance across various speech benchmarks while preserving the original capabilities on text-only tasks. Furthermore, our model shows emergent abilities of effectively handling previously unseen prompts and tasks, including multi-turn, mixed-modal inputs.

Sharing protected health information (PHI) is critical for furthering biomedical research. Before data can be distributed, practitioners often perform deidentification to remove any PHI contained in the text. Contemporary deidentification methods are evaluated on highly saturated datasets (tools achieve near-perfect accuracy) which may not reflect the full variability or complexity of real-world clinical text and annotating them is resource intensive, which is a barrier to real-world applications. To address this gap, we developed an adversarial approach using a large language model (LLM) to re-identify the patient corresponding to a redacted clinical note and evaluated the performance with a novel De-Identification/Re-Identification (DIRI) method. Our method uses a large language model to reidentify the patient corresponding to a redacted clinical note. We demonstrate our method on medical data from Weill Cornell Medicine anonymized with three deidentification tools: rule-based Philter and two deep-learning-based models, BiLSTM-CRF and ClinicalBERT. Although ClinicalBERT was the most effective, masking all identified PII, our tool still reidentified 9% of clinical notes Our study highlights significant weaknesses in current deidentification technologies while providing a tool for iterative development and improvement.

This study reports a comprehensive environmental scan of the generative AI (GenAI) infrastructure in the national network for clinical and translational science across 36 institutions supported by the Clinical and Translational Science Award (CTSA) Program led by the National Center for Advancing Translational Sciences (NCATS) of the National Institutes of Health (NIH) at the United States. With the rapid advancement of GenAI technologies, including large language models (LLMs), healthcare institutions face unprecedented opportunities and challenges. This research explores the current status of GenAI integration, focusing on stakeholder roles, governance structures, and ethical considerations by administering a survey among leaders of health institutions (i.e., representing academic medical centers and health systems) to assess the institutional readiness and approach towards GenAI adoption. Key findings indicate a diverse range of institutional strategies, with most organizations in the experimental phase of GenAI deployment. The study highlights significant variations in governance models, with a strong preference for centralized decision-making but notable gaps in workforce training and ethical oversight. Moreover, the results underscore the need for a more coordinated approach to GenAI governance, emphasizing collaboration among senior leaders, clinicians, information technology staff, and researchers. Our analysis also reveals concerns regarding GenAI bias, data security, and stakeholder trust, which must be addressed to ensure the ethical and effective implementation of GenAI technologies. This study offers valuable insights into the challenges and opportunities of GenAI integration in healthcare, providing a roadmap for institutions aiming to leverage GenAI for improved quality of care and operational efficiency.

Despite significant progress in applying large language models (LLMs) to the medical domain, several limitations still prevent them from practical applications. Among these are the constraints on model size and the lack of cohort-specific labeled datasets. In this work, we investigated the potential of improving a lightweight LLM, such as Llama 3.1-8B, through fine-tuning with datasets using synthetic labels. Two tasks are jointly trained by combining their respective instruction datasets. When the quality of the task-specific synthetic labels is relatively high (e.g., generated by GPT4- o), Llama 3.1-8B achieves satisfactory performance on the open-ended disease detection task, with a micro F1 score of 0.91. Conversely, when the quality of the task-relevant synthetic labels is relatively low (e.g., from the MIMIC-CXR dataset), fine-tuned Llama 3.1-8B is able to surpass its noisy teacher labels (micro F1 score of 0.67 v.s. 0.63) when calibrated against curated labels, indicating the strong inherent underlying capability of the model. These findings demonstrate the potential of fine-tuning LLMs with synthetic labels, offering a promising direction for future research on LLM specialization in the medical domain.

Convolutions have become essential in state-of-the-art end-to-end Automatic Speech Recognition~(ASR) systems due to their efficient modelling of local context. Notably, its use in Conformers has led to superior performance compared to vanilla Transformer-based ASR systems. While components other than the convolution module in the Conformer have been reexamined, altering the convolution module itself has been far less explored. Towards this, we introduce Multi-Convformer that uses multiple convolution kernels within the convolution module of the Conformer in conjunction with gating. This helps in improved modeling of local dependencies at varying granularities. Our model rivals existing Conformer variants such as CgMLP and E-Branchformer in performance, while being more parameter efficient. We empirically compare our approach with Conformer and its variants across four different datasets and three different modelling paradigms and show up to 8% relative word error rate~(WER) improvements.

Self-supervised learning (SSL) has helped extend speech technologies to more languages by reducing the need for labeled data. However, models are still far from supporting the world's 7000+ languages. We propose XEUS, a Cross-lingual Encoder for Universal Speech, trained on over 1 million hours of data across 4057 languages, extending the language coverage of SSL models 4-fold. We combine 1 million hours of speech from existing publicly accessible corpora with a newly created corpus of 7400+ hours from 4057 languages, which will be publicly released. To handle the diverse conditions of multilingual speech data, we augment the typical SSL masked prediction approach with a novel dereverberation objective, increasing robustness. We evaluate XEUS on several benchmarks, and show that it consistently outperforms or achieves comparable results to state-of-the-art (SOTA) SSL models across a variety of tasks. XEUS sets a new SOTA on the ML-SUPERB benchmark: it outperforms MMS 1B and w2v-BERT 2.0 v2 by 0.8% and 4.4% respectively, despite having less parameters or pre-training data. Checkpoints, code, and data are found in https://www.wavlab.org/activities/2024/xeus/.

Contextualized end-to-end automatic speech recognition has been an active research area, with recent efforts focusing on the implicit learning of contextual phrases based on the final loss objective. However, these approaches ignore the useful contextual knowledge encoded in the intermediate layers. We hypothesize that employing explicit biasing loss as an auxiliary task in the encoder intermediate layers may better align text tokens or audio frames with the desired objectives. Our proposed intermediate biasing loss brings more regularization and contextualization to the network. Our method outperforms a conventional contextual biasing baseline on the LibriSpeech corpus, achieving a relative improvement of 22.5% in biased word error rate (B-WER) and up to 44% compared to the non-contextual baseline with a biasing list size of 100. Moreover, employing RNN-transducer-driven joint decoding further reduces the unbiased word error rate (U-WER), resulting in a more robust network.

There has been an increasing interest in large speech models that can perform multiple tasks in a single model. Such models usually adopt an encoder-decoder or decoder-only architecture due to their popularity and good performance in many domains. However, autoregressive models can be slower during inference compared to non-autoregressive models and also have potential risks of hallucination. Though prior studies observed promising results of non-autoregressive models for certain tasks at small scales, it remains unclear if they can be scaled to speech-to-text generation in diverse languages and tasks. Inspired by the Open Whisper-style Speech Model (OWSM) project, we propose OWSM-CTC, a novel encoder-only speech foundation model based on Connectionist Temporal Classification (CTC). It is trained on 180k hours of public audio data for multilingual automatic speech recognition (ASR), speech translation (ST), and language identification (LID). Compared to encoder-decoder OWSM, our OWSM-CTC achieves competitive results on ASR and up to 24% relative improvement on ST, while it is more robust and 3 to 4 times faster for inference. OWSM-CTC also improves the long-form ASR result with 20x speed-up. We will publicly release our code, pre-trained model, and training logs to promote open science in speech foundation models.