Vogel and Motulsky's Human Genetics

  title={Vogel and Motulsky's Human Genetics},
  author={Michael R. Speicher and Arno G. Motulsky and Stylianos E. Antonarakis},
The knowledge of the content of the individual human genomes has become a sine qua non for the understanding of the relationship between genotypic and phenotypic variability. The genome sequence and the ongoing functional annotation require both comparative genome analysis among different species and experimental validation. Extensive common and rare genomic variability exists that strongly influences genome function among individuals, partially determining disease susceptibility. S.E… 

Understanding mutational effects in digenic diseases

The results show that digenic disease data generates novel insights, providing a glimpse into the oligogenic realm, and it is shown that a combination of variant, gene and higher-level features can differentiate between these two classes with high accuracy.

Development of an analysis tool for mitochondrial DNA haplogrouping

A mtDNA haplogrouping tool is presented that uses classification algorithm method that increases the rate of dependence on database and can provide a useful solution to have an accurate haplogroupsing result from complete mtDNA genome sequences.

Mammary tumor associated Hspb1 mutation and screening of eight cat populations of the world

Results might be helpful to understand the association of this novel locus in a better way with large sample size of cases and may also serve as a potential marker for mammary tumor diagnosis, particularly in cats and generally in all other animal populations in comparative genetics and genomics context.

The Role of Next Generation Sequencing in the Molecular Diagnosis and Treatment of Retinoblastoma

A comparison of costs and effectiveness, measured as the sensitivity of RB1 mutation detection, as well as the number of invasive eye exams under anaesthesia required in the case of false negatives, across the two strategies revealed that the NGS-based strategy was associated with both a lower cost and decreased effectiveness of mutation detection.

NexGenEx-Tom: a gene expression platform to investigate the functionalities of the tomato genome

The architecture and the facilities of NexGenEx-, a web based platform that offers processed NGS transcriptome collections and enables immediate analyses of the results, are presented, dedicated to the organization of results from tomato NGS based transcriptomes.

Novel WDR72 Mutation and Cytoplasmic Localization

It is concluded that WDR72 is a cytoplasmic protein that is critical for dental enamel formation that is identified in both alleles of probands from Mexico and Turkey.

Life‐threatening infectious diseases of childhood: single‐gene inborn errors of immunity?

It is suggested here that life‐threatening infectious diseases in childhood, occurring in the course of primary infection, result mostly from individually rare but collectively diverse single‐gene variations of variable clinical penetrance, whereas the genetic component of predisposition to secondary or reactivation infections in adults is more complex.

On the meaning of the word 'epimutation'.

Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project

The main biomedical considerations of sequencing technologies are outlined and some of the early clinical experiences with the technology are demonstrated to enable the debate to stay focused on real-world practicalities and to develop modes of returning results to individual subjects.

Array CGH in routine prenatal diagnosis practice

It is still wise to use aCGH in prenatal diagnosis according to ultrasound fetal abnormalities and genotype-phenotype correlation in unexpected chromosomal findings in the fetus, and it would be of interest to compare molecular cytogenetic analysis with good quality conventional karyotyping, because a resolution of less than 400 bands is considered to be inappropriate for routine chromosome analysis.



A HapMap harvest of insights into the genetics of common disease.

HapMap-based discoveries have shed new light on the impact of evolutionary pressures on the human genome, suggesting multiple loci important for adapting to disease-causing pathogens and new environments.

Initial sequencing and comparative analysis of the mouse genome.

The results of an international collaboration to produce a high-quality draft sequence of the mouse genome are reported and an initial comparative analysis of the Mouse and human genomes is presented, describing some of the insights that can be gleaned from the two sequences.

Initial sequencing and analysis of the human genome.

The results of an international collaboration to produce and make freely available a draft sequence of the human genome are reported and an initial analysis is presented, describing some of the insights that can be gleaned from the sequence.

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project are reported, providing convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts.

Joseph Adams (1756-1818): a forgotten founder of medical genetics.

Few systematic accounts of hereditary diseases in man appear to have been published before the twentieth century, but the striking sex-linked character of traits, such as color blindness and hemophilia, had also been established near the end of the eighteenth century and the beginning of the twenties.

From pharmacogenetics and ecogenetics to pharmacogenomics.

The field is likely to have an impact on choice of drug therapy and avoidance of adverse events but is unlikely to lead to a revolution in therapeutics, and aspects of pharmacogenomic approaches and its applications including problems of premature commercialization are discussed.

William Bateson, human genetics and medicine

Not only should Bateson be regarded as one of the founders of human genetics, but human genetics itself should be seen as a key element of the foundations of mendelian inheritance, not simply a later development from knowledge gained by study of other species.

A second generation human haplotype map of over 3.1 million SNPs

The Phase II HapMap is described, which characterizes over 3.1 million human single nucleotide polymorphisms genotyped in 270 individuals from four geographically diverse populations and includes 25–35% of common SNP variation in the populations surveyed, and increased differentiation at non-synonymous, compared to synonymous, SNPs is demonstrated.

Inborn Errors of Metabolism

Diverse forms of G6PD deficiency may serve as a useful guide for future studies of inborn errors of metabolism and other recessively inherited diseases, in that a number of mutant alleles may exist at the gene locus concerned.

The problem of dominance in man

The majority of pathological genes in man are conditionally dominant, showing a definite expression in the heterozygote, and have poor penetrance, both for autosomal as well as for sex-linked genes.