Genealogical data in population medical genetics: field guidelines
This is a guide for fieldwork in Population Medical Genetics research projects. Data collection, handling, and analysis from large pedigrees require the use of specific tools and methods not widely familiar to human geneticists, unfortunately leading to ...
Fernando A. Poletta +2 more
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On the relevance of the “genetics-based” approach to medicine for sociological perspectives on medical specialization [PDF]
This paper draws on a study on the development of medical genetics as a medical specialism in the UK and Canada to reflect on how local and national contexts affect specialty formation.
Abbott +92 more
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Comparing genomic studies in animal breeding and human genetics: focus on disease-related traits in livestock — A review [PDF]
Genomic studies of diseases can be divided into two types: i) analyses that reveal causal genes by focusing on linkage disequilibrium between observed and causal variants and ii) those that simultaneously assess numerous genetic markers to estimate the ...
Olivier Gervais, Yoshitaka Nagamine
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Understanding of research, genetics and genetic research in a rapid ethical assessment in north west Cameroon [PDF]
BACKGROUND There is limited assessment of whether research participants in low-income settings are afforded a full understanding of the meaning of medical research. There may also be particular issues with the understanding of genetic research.
Bhutta +12 more
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Long-Read Sequencing Emerging in Medical Genetics
The wide implementation of next-generation sequencing (NGS) technologies has revolutionized the field of medical genetics. However, the short read lengths of currently used sequencing approaches pose a limitation for the identification of structural ...
Tuomo Mantere +7 more
doaj +1 more source
Amal A Alotaibi, Mary Anne W Cordero Basic Science Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh, 11671, Kingdom of Saudi ArabiaCorrespondence: Mary Anne W CorderoBasic Science Department, College of Medicine ...
Alotaibi AA, Cordero MAW
doaj
Brown adipocytes can display a mammary basal myoepithelial cell phenotype in vivo [PDF]
This work was supported by the Strategic Priority Research Program of the Chinese Academy of Sciences (XDB13030000) and the CAS-Novonordisk Foundation, as well as grants from the ‘1000 talents’ recruitment program, and a ‘Great-wall professorship’ from ...
Jin, Wanzhu +8 more
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A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron. [PDF]
Blood. 2005 Oct 15;106(8):2922-3. A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron.
Almeida, S. +8 more
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Doctors Discussing “the Root of Koreans”: Medical Genetics and the Korean Origin, 1975-1987 [PDF]
Anthropological genetics emerged as a new discipline to investigate the origin of human species in the second half of the twentieth century. Using the genetic database of blood groups and other protein polymorphisms, anthropological geneticists started ...
Jaehwan HYUN
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Some pioneers of European human genetics [PDF]
Some of the pioneers of human genetics across Europe are described, based on a series of 100 recorded interviews made by the author. These interviews, and the memories of earlier workers in the field recalled by interviewees, provide a vivid picture ...
A Hogben +27 more
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