Application of Machine Learning in Melanoma Detection and the Identification of 'Ugly Duckling' and Suspicious Naevi: A Review

Skin lesions known as naevi exhibit diverse characteristics such as size, shape, and colouration. The concept of an "Ugly Duckling Naevus" comes into play when monitoring for melanoma, referring to a lesion with distinctive features that sets it apart from other lesions in the vicinity. As lesions within the same individual typically share similarities and follow a predictable pattern, an ugly duckling naevus stands out as unusual and may indicate the presence of a cancerous melanoma. Computer-aided diagnosis (CAD) has become a significant player in the research and development field, as it combines machine learning techniques with a variety of patient analysis methods. Its aim is to increase accuracy and simplify decision-making, all while responding to the shortage of specialized professionals. These automated systems are especially important in skin cancer diagnosis where specialist availability is limited. As a result, their use could lead to life-saving benefits and cost reductions within healthcare. Given the drastic change in survival when comparing early stage to late-stage melanoma, early detection is vital for effective treatment and patient outcomes. Machine learning (ML) and deep learning (DL) techniques have gained popularity in skin cancer classification, effectively addressing challenges, and providing results equivalent to that of specialists. This article extensively covers modern Machine Learning and Deep Learning algorithms for detecting melanoma and suspicious naevi. It begins with general information on skin cancer and different types of naevi, then introduces AI, ML, DL, and CAD. The article then discusses the successful applications of various ML techniques like convolutional neural networks (CNN) for melanoma detection compared to dermatologists' performance. Lastly, it examines ML methods for UD naevus detection and identifying suspicious naevi

Universal barcoding regions, rbcL, matK and trnH-psbA do not discriminate Cinnamomum species in Sri Lanka.

The genus Cinnamomum consists of about 250 species spread globally. Out of these, C. verum (C. zeylanicum), also known as true cinnamon or Ceylon cinnamon, has gained worldwide attention due to its culinary uses and medicinal values. Sri Lanka is the largest true cinnamon producer in the world and accounts for about 80-90% of global production. Other than the cultivated species, Sri Lankan natural vegetation is home to seven endemic wild species of the genus Cinnamomum. While these are underutilized, proper identification and characterization are essential steps in any sustainable conservation and utilization strategies. Currently, species identification is purely based on morphological traits, and intraspecific diversity has made it more challenging. In this study, all the eight Cinnamomum species found in Sri Lanka, C. capparu-coronde, C. citriodorum C. dubium, C. litseifolium, C. ovalifolium, C. rivulorum, C. sinharajaense, and C. verum were collected in triplicates and identified using typical morphological traits. DNA extracted with the same collection was assessed with universal barcoding regions, rbcL, matK, and trnH-psbA. While no intraspecific sequence differences were observed in C. citriodorum, C. rivulorum, and C. verum, the others had polymorphic sites in one, two, or all regions assessed. Interestingly, two individuals of C. sinharajaense had identical barcodes to the cultivated species C. verum, while the other one had one variable cite in matK region and three cites in trnH-psbA reigon. Further, one C. dubium and one C. capparu-coronde accession each had identical, rbcL, and trnH-psbA sequences while those had only a single nucleotide variation observed in matK region. Overall, the phylogeny of Cinnamomum species found in Sri Lanka could not be completely resolved with DNA barcoding regions studied

Distance matrix obtained for the ITS alignment of <i>Cinnamomum</i> samples.

Distance matrix obtained for the ITS alignment of Cinnamomum samples.</p

Details of the wild <i>Cinnamomum</i> samples collected.

Cinnamomum species have gained worldwide attention because of their economic benefits. Among them, C. verum (synonymous with C. zeylanicum Blume), commonly known as Ceylon Cinnamon or True Cinnamon is mainly produced in Sri Lanka. In addition, Sri Lanka is home to seven endemic wild cinnamon species, C. capparu-coronde, C. citriodorum, C. dubium, C. litseifolium, C. ovalifolium, C. rivulorum and C. sinharajaense. Proper identification and genetic characterization are fundamental for the conservation and commercialization of these species. While some species can be identified based on distinct morphological or chemical traits, others cannot be identified easily morphologically or chemically. The DNA barcoding using rbcL, matK, and trnH-psbA regions could not also resolve the identification of Cinnamomum species in Sri Lanka. Therefore, we generated Illumina Hiseq data of about 20x coverage for each identified species and a C. verum sample (India) and assembled the chloroplast genome, nuclear ITS regions, and several mitochondrial genes, and conducted Skmer analysis. Chloroplast genomes of all eight species were assembled using a seed-based method.According to the Bayesian phylogenomic tree constructed with the complete chloroplast genomes, the C. verum (Sri Lanka) is sister to previously sequenced C. verum (NC_035236.1, KY635878.1), C. dubium and C. rivulorum. The C. verum sample from India is sister to C. litseifolium and C. ovalifolium. According to the ITS regions studied, C. verum (Sri Lanka) is sister to C. verum (NC_035236.1), C. dubium and C. rivulorum. Cinnamomum verum (India) shares an identical ITS region with C. ovalifolium, C. litseifolium, C. citriodorum, and C. capparu-coronde. According to the Skmer analysis C. verum (Sri Lanka) is sister to C. dubium and C. rivulorum, whereas C. verum (India) is sister to C. ovalifolium, and C. litseifolium. The chloroplast gene ycf1 was identified as a chloroplast barcode for the identification of Cinnamomum species. We identified an 18 bp indel region in the ycf1 gene, that could differentiate C. verum (India) and C. verum (Sri Lanka) samples tested.</div

Distance matrix obtained for the chloroplast genome alignment of <i>Cinnamomum</i> samples.

Distance matrix obtained for the chloroplast genome alignment of Cinnamomum samples.</p

The Bayesian phylogenomic tree constructed for <i>Cinnamomum</i> species based on ITS regions.

Posterior probability values are given next to the nodes and Ocotea porosa was set as the outgroup.</p

Nucleotide diversity of the mitochondrial genes <i>atp6</i> and <i>cox1</i> among 10 <i>Cinnamomum</i> species.

Accession numbers in the first column represent atp6 and cox1 respectively. (XLSX)</p

Nucleotide diversity in ITS regions among 10 <i>Cinnamomum</i> species.

Nucleotide diversity in ITS regions among 10 Cinnamomum species.</p

The nucleotide diversity (Pi) calculated for the chloroplast genomes of <i>Cinnamomum</i> species.

The nucleotide diversity (Pi) calculated for the chloroplast genomes of Cinnamomum species.</p