Mengyan Li

Jun Yu, Guochen Xie, Mengyan Li et al.

Retrieval of family members in the wild aims at finding family members of the given subject in the dataset, which is useful in finding the lost children and analyzing the kinship. However, due to the diversity in age, gender, pose and illumination of the collected data, this task is always challenging. To solve this problem, we propose our solution with deep Siamese neural network. Our solution can be divided into two parts: similarity computation and ranking. In training procedure, the Siamese network firstly takes two candidate images as input and produces two feature vectors. And then, the similarity between the two vectors is computed with several fully connected layers. While in inference procedure, we try another similarity computing method by dropping the followed several fully connected layers and directly computing the cosine similarity of the two feature vectors. After similarity computation, we use the ranking algorithm to merge the similarity scores with the same identity and output the ordered list according to their similarities. To gain further improvement, we try different combinations of backbones, training methods and similarity computing methods. Finally, we submit the best combination as our solution and our team(ustc-nelslip) obtains favorable result in the track3 of the RFIW2020 challenge with the first runner-up, which verifies the effectiveness of our method. Our code is available at: https://github.com/gniknoil/FG2020-kinship

Kimberly F. Greco, Zongxin Yang, Mengyan Li et al.

Rare diseases affect an estimated 300-400 million people worldwide, yet individual conditions remain underdiagnosed and poorly characterized due to their low prevalence and limited clinician familiarity. Computational phenotyping offers a scalable approach to improving rare disease detection, but algorithm development is hindered by the scarcity of high-quality labeled data for training. Expert-labeled datasets from chart reviews and registries are clinically accurate but limited in scope and availability, whereas labels derived from electronic health records (EHRs) provide broader coverage but are often noisy or incomplete. To address these challenges, we propose WEST (WEakly Supervised Transformer for rare disease phenotyping and subphenotyping from EHRs), a framework that combines routinely collected EHR data with a limited set of expert-validated cases and controls to enable large-scale phenotyping. At its core, WEST employs a weakly supervised transformer model trained on extensive probabilistic silver-standard labels - derived from both structured and unstructured EHR features - that are iteratively refined during training to improve model calibration. We evaluate WEST on two rare pulmonary diseases using EHR data from Boston Children's Hospital and show that it outperforms existing methods in phenotype classification, identification of clinically meaningful subphenotypes, and prediction of disease progression. By reducing reliance on manual annotation, WEST enables data-efficient rare disease phenotyping that improves cohort definition, supports earlier and more accurate diagnosis, and accelerates data-driven discovery for the rare disease community.