scholarly journals 2021 at European Journal of Human Genetics: the year in review

2022 ◽  
Vol 30 (1) ◽  
pp. 3-4
Author(s):  
Alisdair McNeill
Keyword(s):  
Human Genetics

Human Genetics

1986 ◽  
Author(s):  
Friedrich Vogel ◽  
Arno G. Motulsky
Keyword(s):  
Human Genetics

Getting the Measure of Twins

2018 ◽  
Author(s):  
William Viney
Keyword(s):  
Environmental Effects ◽  
Natural Experiment ◽  
Human Genetics ◽  
Scientific Research ◽  
Identical Twin ◽  
Social Scientists ◽  
Modern Biology ◽  
Stephen Jay Gould

Stephen Jay Gould, the biologist and author, once joked that were he an identical twin raised separately from his brother they could ‘hire ourselves out to a host of social scientists and practically name our fee’. In order to monetise Gould’s fantasy, one would want a form of twinship that could operate according to evidential, experimental, somatic and circumstantial ideals. And Gould admits that he and his brother would need to be viewed as ‘the only really adequate natural experiment for separating genetic from environmental effects in humans’. This chapter seeks to interrogate the evidential and experimental circumstances that may underpin the comic quips that guide modern biology. In human genetics, twins are used as experimental bodies that are made to matter in particular ways and for particular people; they become newly ‘animate’ for being enrolled into scientific research. Raised in cultures assumed to be alike or dissimilar, isolated by researchers for being valuable in the measured disentanglement of assembled molecular agents (which are sometimes distinguished from an assemblage referred to as an ‘environment’), twins achieve a status of experimental significance not just for what they do but also for what they are taken to be.

scholarly journals Genetic variation in the Middle East—an opportunity to advance the human genetics field

2020 ◽  
Vol 12 (1) ◽  
Author(s):  
Ahmad N. Abou Tayoun ◽  
Heidi L. Rehm
Keyword(s):  
Genetic Variation ◽  
Middle East ◽  
Human Genetics ◽  
High Impact ◽  
Limiting Factors ◽  
Sequencing Data ◽  
Clinical Sequencing ◽  
The World ◽  
Genomic Studies

AbstractWe highlight the current lack of representation of the Middle East from large genomic studies and emphasize the expected high impact of cataloging its variation. We discuss the limiting factors and possible solutions to generating and accessing research and clinical sequencing data from this part of the world.

scholarly journals MegaLMM: Mega-scale linear mixed models for genomic predictions with thousands of traits

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Daniel E. Runcie ◽  
Jiayi Qu ◽  
Hao Cheng ◽  
Lorin Crawford
Keyword(s):  
Genomic Prediction ◽  
Large Scale ◽  
Mixed Model ◽  
Human Genetics ◽  
Linear Mixed Effect Model ◽  
Mixed Effect ◽  
Statistical Framework ◽  
Effect Model ◽  
Plant Data ◽  
Genetic Value

AbstractLarge-scale phenotype data can enhance the power of genomic prediction in plant and animal breeding, as well as human genetics. However, the statistical foundation of multi-trait genomic prediction is based on the multivariate linear mixed effect model, a tool notorious for its fragility when applied to more than a handful of traits. We present , a statistical framework and associated software package for mixed model analyses of a virtually unlimited number of traits. Using three examples with real plant data, we show that can leverage thousands of traits at once to significantly improve genetic value prediction accuracy.

scholarly journals Reconstruction of Microbial Haplotypes by Integration of Statistical and Physical Linkage in Scaffolding

2021 ◽  
Author(s):  
Chen Cao ◽  
Jingni He ◽  
Lauren Mak ◽  
Deshan Perera ◽  
Devin Kwok ◽  
...  
Keyword(s):  
Single Molecule ◽  
Human Genetics ◽  
Real Data ◽  
Sequencing Technologies ◽  
Bacterial Genomics ◽  
Physical Linkage ◽  
Pooled Sequencing ◽  
Computational Reconstruction ◽  
Host Genetic ◽  
Host Evolution

Abstract DNA sequencing technologies provide unprecedented opportunities to analyze within-host evolution of microorganism populations. Often, within-host populations are analyzed via pooled sequencing of the population, which contains multiple individuals or “haplotypes.” However, current next-generation sequencing instruments, in conjunction with single-molecule barcoded linked-reads, cannot distinguish long haplotypes directly. Computational reconstruction of haplotypes from pooled sequencing has been attempted in virology, bacterial genomics, metagenomics, and human genetics, using algorithms based on either cross-host genetic sharing or within-host genomic reads. Here, we describe PoolHapX, a flexible computational approach that integrates information from both genetic sharing and genomic sequencing. We demonstrated that PoolHapX outperforms state-of-the-art tools tailored to specific organismal systems, and is robust to within-host evolution. Importantly, together with barcoded linked-reads, PoolHapX can infer whole-chromosome-scale haplotypes from 50 pools each containing 12 different haplotypes. By analyzing real data, we uncovered dynamic variations in the evolutionary processes of within-patient HIV populations previously unobserved in single position-based analysis.

scholarly journals The Contribution of Somatic Expansion of the CAG Repeat to Symptomatic Development in Huntington’s Disease: A Historical Perspective

2021 ◽  
Vol 10 (1) ◽  
pp. 7-33
Author(s):  
Darren G. Monckton
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Human Genetics ◽  
Age At Onset ◽  
Cag Repeat ◽  
Model Systems ◽  
Causative Mutation ◽  
Inverse Association ◽  
Independent Manner ◽  
Dna Mismatch

The discovery in the early 1990s of the expansion of unstable simple sequence repeats as the causative mutation for a number of inherited human disorders, including Huntington’s disease (HD), opened up a new era of human genetics and provided explanations for some old problems. In particular, an inverse association between the number of repeats inherited and age at onset, and unprecedented levels of germline instability, biased toward further expansion, provided an explanation for the wide symptomatic variability and anticipation observed in HD and many of these disorders. The repeats were also revealed to be somatically unstable in a process that is expansion-biased, age-dependent and tissue-specific, features that are now increasingly recognised as contributory to the age-dependence, progressive nature and tissue specificity of the symptoms of HD, and at least some related disorders. With much of the data deriving from affected individuals, and model systems, somatic expansions have been revealed to arise in a cell division-independent manner in critical target tissues via a mechanism involving key components of the DNA mismatch repair pathway. These insights have opened new approaches to thinking about how the disease could be treated by suppressing somatic expansion and revealed novel protein targets for intervention. Exciting times lie ahead in turning these insights into novel therapies for HD and related disorders.

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