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Marini, N.

Publications and source records attributed to Marini, N..

2 recordsLinked to original sources

stainlib: a python library for augmentation and normalization of histopathology H&E images

Computational pathology is a domain of increasing scientific and social interest. The automatic analysis of histopathology images stained with Hematoxylin and Eosin (H&E) can help clinicians diagnose and quantify diseases. Computer vision methods based on deep learning can perform on par or better than pathologists in specific tasks [1, 2, 15]. Nevertheless, the visual heterogeneity in histopathology images due to batch effects, differences in preparation in different pathology laboratories, and the scanner can produce tissue appearance changes in the digitized whole-slide images. Such changes impede the application of the trained models in clinical scenarios where there is high variability in the images. We introduce stainlib, an easy-to-use and expandable python3 library that collects and unifies state-of-the-art methods for color augmentation and normalization of histopathology H&E images. stainlib also contains recent deep learning-based approaches that perform a robust stain-invariant training of CNN models. stainlib can help researchers build models robust to color domain shift by augmenting and harmonizing the training data, allowing the deployment of better models in the digital pathology practice.

bioinformatics↗

Accumulation of Rare Coding Variants in Genes Implicated in Risk of Human Cleft Lip with or without Cleft Palate

Cleft lip with/without cleft palate (CLP) is a common craniofacial malformation with complex etiologies, reflecting both genetic and environmental factors. Most of the suspected genetic risk for CLP has yet to be identified. To further classify risk loci and estimate the contribution of rare variants, we sequenced the exons in 49 candidate genes in 323 CLP cases and 211 non-malformed controls. Our findings indicated that rare, protein-altering variants displayed markedly higher burdens in CLP cases at relevant loci. First, putative loss-of-function mutations (nonsense, frameshift) were significantly enriched among cases: 13 of 323 cases (~4%) harbored such alleles within these 49 genes, versus one such change in controls (p = 0.01). Second, in gene-level analyses, the burden of rare alleles showed greater case-association for several genes previously implicated in cleft risk. For example, BHMT displayed a 10-fold increase in protein-altering variants in CLP cases (p = 0.03), including multiple case occurrences of a rare frameshift mutation (K400fs). Other loci with greater rare, coding allele burdens in cases were in signaling pathways relevant to craniofacial development (WNT9B, BMP4, BMPR1B) as well as the methionine cycle (MTRR). We conclude that rare coding variants may confer risk for isolated CLP.

genetics↗