Referenced Papers (14)
Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia
A Hillmer, S Hanneken, S Ritzmann, T Becker, J Freudenberg, F F Brockschmidt
Am. J. Hum. Genet., 2005
"This 2005 linkage study is presented as a classic example of using genetic linkage to map the gene for male pattern baldness to the androgen receptor on the X chromosome."
Experimental studies in the physiology of heredity
W Bateson, E R Waunders, R Punnett
Z. Indukt. Abstamm. Vererbungsl., 2017
"This work by Bateson, Saunders, and Punnett is cited as the first to document a violation of Mendel's law of independent assortment, which they observed while studying flower color and pollen shape, thus paving the way for the concept of genetic linkage."
The linear arrangement of six sex‐linked factors in Drosophila, as shown by their mode of association
A H Sturtevant
J. Exp. Zool., 1913
"This 1913 paper by Alfred Sturtevant is highlighted for creating the first genetic linkage map, which established that the strength of linkage could be used to determine the linear arrangement of genes on a chromosome."
C-reactive protein--the most important risk factors of atherosclerosis?
Matti Mänttäri, Petri Kovanen
Duodecim, 2003
"This work by Barbara McClintock and Harriet Creighton is presented as providing the first physical demonstration of genetic linkage and crossing over by visually observing chromosomal changes in maize that correlated with inherited traits."
Finding genes that underlie complex traits
Anne M Glazier, Joseph H Nadeau, Timothy J Aitman
Science, 2002
"This chart is shown to illustrate the limited success of family-based linkage analysis for studying complex diseases compared to its great success with Mendelian traits during the 1980s and 1990s."
The future of genetic studies of complex human diseases
N Risch, K Merikangas
Science, 1996
"This 1996 Science paper is cited for modeling the number of families required for linkage studies of complex diseases and proposing association studies as a more powerful alternative for identifying genetic factors with smaller effect sizes."
A global reference for human genetic variation
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang
Nature, 2015
"This slide's graphics are used to explain key lessons from studying genetic variation, such as the vast number of variants per individual and the fact that most common variants are shared across populations."
Patterns of linkage disequilibrium in the human genome
Kristin G Ardlie, Leonid Kruglyak, Mark Seielstad
Nat. Rev. Genet., 2002
"This slide introduces the concept of linkage disequilibrium (LD), explaining that most variants are ancient and arose once, leading to shared sequence identity in the surrounding regions of present-day chromosomes."
Mammalian recombination hot spots: properties, control and evolution
Kenneth Paigen, Petko Petkov
Nat. Rev. Genet., 2010
"This citation supports the point that recombination is not random across the genome but occurs in hotspots, leading to the formation of haplotype blocks where sets of variants are inherited together."
Efficiency and power in genetic association studies
Paul I W de Bakker, Roman Yelensky, Itsik Pe'er, Stacey B Gabriel, Mark J Daly, David Altshuler
Nat. Genet., 2005
"This graph from the HapMap project is used to show the massive efficiency gains provided by using tag SNPs for association studies, demonstrating that genotyping a fraction of variants can provide high power to detect associations."
Fast two-stage phasing of large-scale sequence data
Brian L Browning, Xiaowen Tian, Ying Zhou, Sharon R Browning
Am. J. Hum. Genet., 2021
"The speaker uses this slide to illustrate methods for improving phasing accuracy, such as using larger reference datasets, long-read sequencing technologies, or trio data."
Identification of somatic mutations in monozygotic twins discordant for psychiatric disorders
Masaki Nishioka, Miki Bundo, Junko Ueda, Akane Yoshikawa, Fumichika Nishimura, Tsukasa Sasaki
NPJ Schizophr., 2018
"This diagram is used to explain that somatic mutations, which arise post-zygotically, are not present in all cells and can contribute to the focal nature of certain disease phenotypes."
Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations
Po-Ru Loh, Giulio Genovese, Robert E Handsaker, Hilary K Finucane, Yakir A Reshef, Pier Francesco Palamara
Nature, 2018
"This work is cited to show how phasing information can be used to improve the sensitivity of detecting mosaic structural variants, which are otherwise difficult to identify with traditional methods."
Successful use of rituximab in granulomatosis with polyangiitis with aortic inflammation
Lucas Pineda Bernal, Nicole Bitencourt, Kiran Batra, Elizabeth Blair Solow
Clin. Exp. Rheumatol., 2019
"This citation supports the finding that vascular malformations which tested negative for point mutations were found to have copy-neutral loss of heterozygosity (CN-LOH), confirming the two-hit mechanism."