Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Peter Calabrese"'
Autor:
Kyumin Kim, Peter Calabrese, Shanshan Wang, Chao Qin, Youliang Rao, Pinghui Feng, Xiaojiang S. Chen
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-15 (2022)
Abstract During COVID-19 pandemic, mutations of SARS-CoV-2 produce new strains that can be more infectious or evade vaccines. Viral RNA mutations can arise from misincorporation by RNA-polymerases and modification by host factors. Analysis of SARS-Co
Externí odkaz:
https://doaj.org/article/2b791fb837ed48089c51d4e1c3b1fed6
Publikováno v:
PLoS ONE, Vol 11, Iss 6, p e0158340 (2016)
We used targeted next generation deep-sequencing (Safe Sequencing System) to measure ultra-rare de novo mutation frequencies in the human male germline by attaching a unique identifier code to each target DNA molecule. Segments from three different h
Externí odkaz:
https://doaj.org/article/3e7cdcecb44741dda6d61c33fa63d38a
Publikováno v:
PLoS Genetics, Vol 8, Iss 2, p e1002420 (2012)
Multiple endocrine neoplasia type 2B (MEN2B) is a highly aggressive thyroid cancer syndrome. Since almost all sporadic cases are caused by the same nucleotide substitution in the RET proto-oncogene, the calculated disease incidence is 100-200 times g
Externí odkaz:
https://doaj.org/article/942c8ad1c0b546c6a814b26c01e6188c
Autor:
Song-Ro Yoon, Jian Qin, Rivka L Glaser, Ethylin Wang Jabs, Nancy S Wexler, Rebecca Sokol, Norman Arnheim, Peter Calabrese
Publikováno v:
PLoS Genetics, Vol 5, Iss 7, p e1000558 (2009)
Apert syndrome is almost always caused by a spontaneous mutation of paternal origin in one of two nucleotides in the fibroblast growth factor receptor 2 gene (FGFR2). The incidence of this disease increases with the age of the father (paternal age ef
Externí odkaz:
https://doaj.org/article/b487bfdd2de34f12944611e1dd9dfab8
Autor:
Jian Qin, Peter Calabrese, Irene Tiemann-Boege, Deepali Narendra Shinde, Song-Ro Yoon, David Gelfand, Keith Bauer, Norman Arnheim
Publikováno v:
PLoS Biology, Vol 5, Iss 9, p e224 (2007)
The frequency of the most common sporadic Apert syndrome mutation (C755G) in the human fibroblast growth factor receptor 2 gene (FGFR2) is 100-1,000 times higher than expected from average nucleotide substitution rates based on evolutionary studies a
Externí odkaz:
https://doaj.org/article/a166a3a216834ea4a792d0387bc47741
Autor:
Christopher Toomajian, Tina T Hu, Maria José Aranzana, Clare Lister, Chunlao Tang, Honggang Zheng, Keyan Zhao, Peter Calabrese, Caroline Dean, Magnus Nordborg
Publikováno v:
PLoS Biology, Vol 4, Iss 5, p e137 (2006)
The detection of footprints of natural selection in genetic polymorphism data is fundamental to understanding the genetic basis of adaptation, and has important implications for human health. The standard approach has been to reject neutrality in fav
Externí odkaz:
https://doaj.org/article/d5f54adb435b4b8c87fedf65b3e7b4e1
Publikováno v:
PLoS Genetics, Vol 2, Iss 5, p e70 (2006)
For decades, classical crossover studies and linkage disequilibrium (LD) analysis of genomic regions suggested that human meiotic crossovers may not be randomly distributed along chromosomes but are focused instead in "hot spots." Recent sperm typing
Externí odkaz:
https://doaj.org/article/20b13d7b72f94c78b3457fc1885c4463
Autor:
Magnus Nordborg, Tina T Hu, Yoko Ishino, Jinal Jhaveri, Christopher Toomajian, Honggang Zheng, Erica Bakker, Peter Calabrese, Jean Gladstone, Rana Goyal, Mattias Jakobsson, Sung Kim, Yuri Morozov, Badri Padhukasahasram, Vincent Plagnol, Noah A Rosenberg, Chitiksha Shah, Jeffrey D Wall, Jue Wang, Keyan Zhao, Theodore Kalbfleisch, Vincent Schulz, Martin Kreitman, Joy Bergelson
Publikováno v:
PLoS Biology, Vol 3, Iss 7, p e196 (2005)
We resequenced 876 short fragments in a sample of 96 individuals of Arabidopsis thaliana that included stock center accessions as well as a hierarchical sample from natural populations. Although A. thaliana is a selfing weed, the pattern of polymorph
Externí odkaz:
https://doaj.org/article/9b9ec1d616304098ac3ae9ff919c988b
Autor:
Peter Calabrese
Publikováno v:
Journal of Computational Biology. 29:616-618
Autor:
Jordan Eboreime, Soo‐Kyung Choi, Song‐Ro Yoon, Anastasiia Sadybekov, Vsevolod Katritch, Peter Calabrese, Norman Arnheim
Publikováno v:
Human mutationREFERENCES. 43(12)
Some spontaneous germline gain-of-function mutations promote spermatogonial stem cell clonal expansion and disproportionate variant sperm production leading to unexpectedly high transmission rates for some human genetic conditions. To measure the fre