Statistical method for testing the neutral mutation hypothesis by DNA polymorphism.

So far in this course we have dealt entirely with the evolution of characters that are controlled by simple Mendelian inheritance at a single locus. There are notes on the course website about gametic disequilibrium and how allele frequencies change at two loci simultaneously, but we didn’t discuss them. In every example we’ve considered we’ve imagined that we could understand something about evolution by examining the evolution of a single gene. That’s the domain of classical population genetics. For the next few weeks we’re going to be exploring a field that’s actually older than classical population genetics, although the approach we’ll be taking to it involves the use of population genetic machinery. If you know a little about the history of evolutionary biology, you may know that after the rediscovery of Mendel’s work in 1900 there was a heated debate between the “biometricians” (e.g., Galton and Pearson) and the “Mendelians” (e.g., de Vries, Correns, Bateson, and Morgan). Biometricians asserted that the really important variation in evolution didn’t follow Mendelian rules. Height, weight, skin color, and similar traits seemed to

Human biochemical genetics

The reference human genome sequence set the stage for studies of genetic variation and its association with human disease, but epigenomic studies lack a similar reference. To address this need, the NIH Roadmap Epigenomics Consortium generated the largest collection so far of human epigenomes for primary cells and tissues. Here we describe the integrative analysis of 111 reference human epigenomes generated as part of the programme, profiled for histone modification patterns, DNA accessibility, DNA methylation and RNA expression. We establish global maps of regulatory elements, define regulatory modules of coordinated activity, and their likely activators and repressors. We show that disease- and trait-associated genetic variants are enriched in tissue-specific epigenomic marks, revealing biologically relevant cell types for diverse human traits, and providing a resource for interpreting the molecular basis of human disease. Our results demonstrate the central role of epigenomic information for understanding gene regulation, cellular differentiation and human disease.

Integrative analysis of 111 reference human epigenomes

Genetics and analysis of quantitative traits

Increasingly, data on shape are analysed in combination with molecular genetic or ecological information, so that tools for geometric morphometric analysis are required. Morphometric studies most often use the arrangements of morphological landmarks as the data source and extract shape information from them by Procrustes superimposition. The MorphoJ software combines this approach with a wide range of methods for shape analysis in different biological contexts. The program offers an integrated and user-friendly environment for standard multivariate analyses such as principal components, discriminant analysis and multivariate regression as well as specialized applications including phylogenetics, quantitative genetics and analyses of modularity in shape data. MorphoJ is written in Java and versions for the Windows, Macintosh and Unix/Linux platforms are freely available from http://www.flywings.org.uk/MorphoJ_page.htm.

Morphoj: an integrated software package for geometric morphometrics

Varios autores han verificado la existencia de asociaciones significativas entre algunos rasgos no metricos y factores como el sexo, la edad y la deformacion craneana artificial en diversas poblaciones. El objeto de este trabajo es identificar aquellos rasgos no-metricos (RNM) que se encuentran estadisticamente asociados al sexo, la edad y la deformacion artificial en una muestra de craneos provenientes de cazadores recolectores del Noreste de la Patagonia. El procesamiento estadistico consistio en pruebas X2 para tablas de contingencia que permitieron las comparaciones entre los grupos propuestos. El dimorfismo sexual se manifesto a nivel del foramen mastoideo. La edad afecto significativamente la expresion de la sutura infraorbitaria y del wormiano lambdoideo, mientras que el efecto deformacion altero la expresion del rasgo foraminas infraorbitarias multiples. Los factores estudiados influyeron significativamente solo en un reducido numero de RNM, lo que habilita el calculo de biodistancias a partir de los RNM restantes.

/pdf/influencia-de-los-factores-sexo-edad-y-deformacion-4lg33xvxsg.pdf

Influencia de los factores sexo, edad y deformación artificial sobre la variación discontinua en cazadores recolectores del noreste de la Patagonia

We developed an automatic framework to classify sperm heads as normal or abnormal using image processing and machine learning techniques. The framework segments each sperm head using a color-space-based classification method. A novel set of morphological features is proposed to better describe the sperm head morphology. Finally, a supervised learning model is trained and tested to analyze the feature data for classification. To train and test the model, a publicly available dataset of human sperm heads was used. All sperm samples were manually labeled as normal or abnormal according to the strict criteria of the World Health Organization laboratory manual for the examination and processing of human semen. The segmentation method preserves shape without losing key morphological aspects. The classification model based on morphological descriptors produces better discrimination as compared with the traditional shape descriptors, achieving a 92% accuracy in the discrimination of normal or abnormal spermatozoa.

Supervised Machine Learning Classification of Human Sperm Head Based on Morphological Features

Divergencia biológica entre cazadores-recolectores de la Patagonia argentina

Genética cuantitativa aplicada a la evolución craneofacial en Asia y América

Los análisis morfométricos conllevan sesgos en el nivel de precisión, y por ende, error.El desarrollo de la morfometría geométrica ha permitido generar colecciones digitalesque albergan archivos procedentes de fuentes diversas. El uso combinado de digital-izaciones obtenidas a través de técnicas diferentes introduce un nuevo tipo de error,el error intermétodo. El uso de estas fuentes de digitalización de manera conjuntase producirá con un error bajo, siempre y cuando no existan diferencias significativas entre técnicas. Se realizaron análisis de la varianza Procustes, análisis de componentesprincipales sobre las coordenadas Procrustes y agrupamiento jerárquico para anali-zar el error intermétodo e intraobservador en ocho cráneos humanos originarios dePatagonia Austral, digitalizados mediante tomografía computarizada, escáner de su-perficie y fotogrametría, utilizando para ello 35 puntos homólogos, tipos I, II y III. Losresultados muestran que no hay diferencias significativas entre las fuentes de digital ización, pudiéndose utilizar conjuntamente archivos 3D de diversa procedencia. No se observó error intraobservador significativo para ninguna de las fuentes, siendo este de menor magnitud que el error  intermétodo. En el presente estudio, la fotogrametría, único método que recupera la textura y en el cual se señalaron previamente los puntos homólogos, es la fuente que presenta el menor error. Sobre la base de los resultados obtenidos se sugiere que es posible realizar análisis de morfometría geométrica satisfactorios independientemente de la fuente utilizada para su registro, considerando las aquí analizadas, destacándose la relevancia de la textura y el registro de los puntos de referencia en el nivel de error.

Error intermétodo en morfometría geométrica y la relevancia de la texturización y el registro de los puntos homólogos

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