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Medical Genetics

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Papers

GP-GPT: Large Language Model for Gene-Phenotype Mapping

2024-09-15 · Yanjun Lyu, Zihao Wu, Lu Zhang, Jing Zhang 외

Pre-trained large language models(LLMs) have attracted increasing attention in biomedical domains due to their success in natural language processing. However, the complex traits and heterogeneity of multi-sources genomi…

Information RetrievalLanguage ModelingLanguage ModellingLarge Language Model+1

BioMedLM: A 2.7B Parameter Language Model Trained On Biomedical Text

2024-03-27 · Elliot Bolton, Abhinav Venigalla, Michihiro Yasunaga, David Hall 외

Models such as GPT-4 and Med-PaLM 2 have demonstrated impressive performance on a wide variety of biomedical NLP tasks. However, these models have hundreds of billions of parameters, are computationally expensive to run,…

ArticlesLanguage ModelingLanguage ModellingMedical Genetics+4

Gene Teams are on the Field: Evaluation of Variants in Gene-Networks Using High Dimensional Modelling

2023-01-27 · Suha Tuna, Cagri Gulec, Emrah Yucesan, Ayse Cirakoglu 외

In medical genetics, each genetic variant is evaluated as an independent entity regarding its clinical importance. However, in most complex diseases, variant combinations in specific gene networks, rather than the presen…

Medical Genetics

Correspondence on ACMG STATEMENT: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) by Miller et al

2022-03-09 · Kathryn A. McGurk, Sean L. Zheng, Albert Henry, Katherine Josephs 외

We were interested to read the recent update on recommendations for reporting of secondary findings in clinical sequencing1, and the accompanying updated list of genes in which secondary findings should be sought (ACMG S…

DiagnosticMedical Genetics

Scaling Language Models: Methods, Analysis & Insights from Training Gopher

2021-12-08 · NA 2021 12 · Jack W. Rae, Sebastian Borgeaud, Trevor Cai, Katie Millican 외

Language modelling provides a step towards intelligent communication systems by harnessing large repositories of written human knowledge to better predict and understand the world. In this paper, we present an analysis o…

Abstract AlgebraAnachronismsAnalogical SimilarityAnalytic Entailment+143

GenNet framework: interpretable deep learning for predicting phenotypes from genetic data

2021-09-17 · Nature Communications Biology 2021 9 · Arno van Hilten, Seven A. Kushner, Manfred Kayser, M. Arfan Ikram 외

Applying deep learning in population genomics is challenging because of computational issues and lack of interpretable models. Here, we propose GenNet, a novel open-source deep learning framework for predicting phenotype…

Deep LearningEfficient Neural NetworkGenetic Risk PredictionMedical Genetics

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