Journal ArticleDOI
A multiplex assay with 52 single nucleotide polymorphisms for human identification
Juan J. Sanchez,Christopher Phillips,Claus Børsting,Kinga Balogh,Magdalena Bogus,Manuel Fondevila,C. Harrison,E. Musgrave-Brown,Antonio Salas,Denise Syndercombe-Court,Peter M. Schneider,Angel Carracedo,Niels Morling +12 more
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TLDR
A highly sensitive and reproducible SNP‐typing method is established with amplification of all 52 DNA fragments in one PCR reaction followed by detection of the SNPs with two single base extension reactions analysed using CE.Abstract:
A total of 52 SNPs reported to be polymorphic in European, Asian and African populations were selected. Of these, 42 were from the distal regions of each autosome (except chromosome 19). Nearly all selected SNPs were located at least 100 kb distant from known genes and commonly used STRs. We established a highly sensitive and reproducible SNP-typing method with amplification of all 52 DNA fragments in one PCR reaction followed by detection of the SNPs with two single base extension reactions analysed using CE. The amplicons ranged from 59 to 115 bp in length. Complete SNP profiles were obtained from 500 pg DNA. The 52 loci were efficiently amplified from degraded samples where previously only partial STR profiles had been obtained. A total of 700 individuals from Denmark, Greenland, Somalia, Turkey, China, Germany, Taiwan, Thailand and Japan were typed, and the allele frequencies estimated. All 52 SNPs were polymorphic in the three major population groups. The mean match probability was at least 5.0 x 10(-19) in the populations studied. Typical paternity indices ranged from 336 000 in Asians to 549 000 in Europeans. Details of the 52 SNP loci and population data generated in this work are freely available at http://www.snpforid.org.read more
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Diverse somatic mutation patterns and pathway alterations in human cancers
Zhengyan Kan,Bijay S. Jaiswal,Jeremy Stinson,Vasantharajan Janakiraman,Deepali Bhatt,Howard M. Stern,Peng Yue,Peter M. Haverty,Richard Bourgon,Jianbiao Zheng,Martin Moorhead,Subhra Chaudhuri,Lynn P. Tomsho,Brock A. Peters,Kanan Pujara,Shaun Cordes,David Davis,Victoria Carlton,Wenlin Yuan,Li Li,Weiru Wang,Charles Eigenbrot,Joshua S. Kaminker,David A. Eberhard,Paul Waring,Stephan C. Schuster,Zora Modrusan,Zemin Zhang,David Stokoe,Frederic J. de Sauvage,Malek Faham,Somasekar Seshagiri +31 more
TL;DR: This study provides an overview of the mutational spectra across major human cancers and identifies several potential therapeutic targets.
Journal ArticleDOI
Diverse somatic mutation patterns and pathway alterations in human cancers
TL;DR: This study provides an overview of the mutational spectra across major human cancers and identifies several potential therapeutic targets.
Journal ArticleDOI
Improving human forensics through advances in genetics, genomics and molecular biology
Manfred Kayser,Peter de Knijff +1 more
TL;DR: Advances in genetics, genomics and molecular biology are likely to improve human forensic case work in the near future, including new molecular approaches for finding individuals previously unknown to investigators, and new molecular methods to support links between forensic sample donors and criminal acts.
Journal ArticleDOI
The isolation of nucleic acids from fixed, paraffin-embedded tissues-which methods are useful when?
M. Thomas P. Gilbert,Tamara S. Haselkorn,Michael Bunce,Juan J. Sanchez,Sebastian Lucas,Laurence D. Jewell,Eric Van Marck,Michael Worobey +7 more
TL;DR: This study investigates the quality of nucleic acids recovered from a test panel of fixed specimens that have been manipulated following a number of the published protocols, and provides a quick reference table that can be used to determine appropriate protocols for particular aims.
Journal ArticleDOI
Ancient DNA from European early Neolithic farmers reveals their Near Eastern affinities
Wolfgang Haak,Oleg Balanovsky,Juan J. Sanchez,S. M. Koshel,Valery Zaporozhchenko,Christina J. Adler,Clio Der Sarkissian,Guido Brandt,Carolin Schwarz,Nicole Nicklisch,Veit Dresely,Barbara Fritsch,Elena Balanovska,Richard Villems,Harald Meller,Kurt W. Alt,Alan Cooper +16 more
TL;DR: The first farmers from Central Europe reveal a genetic affinity to modern-day populations from the Near East and Anatolia, which suggests a significant demographic input from this area during the early Neolithic.
References
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