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Current next generation sequencing technology may not meet forensic standards.
Bandelt HJ, Salas A. Bandelt HJ, et al. Forensic Sci Int Genet. 2012 Jan;6(1):143-5. doi: 10.1016/j.fsigen.2011.04.004. Epub 2011 May 11. Forensic Sci Int Genet. 2012. PMID: 21565569
In a Nature paper of 2010, the concern was raised that intra-individual mtDNA variation may be more pronounced than previously believed, in that heteroplasmies are common and vary markedly from tissue to tissue. ...
In a Nature paper of 2010, the concern was raised that intra-individual mtDNA variation may be more pronounced than previously believ …
A reference frequency database of 15 autosomal STRs in Chile.
Toscanini U, Moreno F, Pantoja-Astudillo JA, Morales EA, Bustos P, Salas A. Toscanini U, et al. Forensic Sci Int Genet. 2015 Nov;19:35-36. doi: 10.1016/j.fsigen.2015.05.016. Epub 2015 May 28. Forensic Sci Int Genet. 2015. PMID: 26074412
We estimated the allele frequencies for the 15 autosomal STR loci included in the AmpFlSTR(®) Identifiler (Applied Biosystems, USA) in a sample of 986 unrelated non-Native American individuals collected at five different localities from Chile, namely, Iquique, Santiago, Co …
We estimated the allele frequencies for the 15 autosomal STR loci included in the AmpFlSTR(®) Identifiler (Applied Biosystems, USA) in a
A global analysis of Y-chromosomal haplotype diversity for 23 STR loci.
Purps J, Siegert S, Willuweit S, Nagy M, Alves C, Salazar R, Angustia SM, Santos LH, Anslinger K, Bayer B, Ayub Q, Wei W, Xue Y, Tyler-Smith C, Bafalluy MB, Martínez-Jarreta B, Egyed B, Balitzki B, Tschumi S, Ballard D, Court DS, Barrantes X, Bäßler G, Wiest T, Berger B, Niederstätter H, Parson W, Davis C, Budowle B, Burri H, Borer U, Koller C, Carvalho EF, Domingues PM, Chamoun WT, Coble MD, Hill CR, Corach D, Caputo M, D'Amato ME, Davison S, Decorte R, Larmuseau MH, Ottoni C, Rickards O, Lu D, Jiang C, Dobosz T, Jonkisz A, Frank WE, Furac I, Gehrig C, Castella V, Grskovic B, Haas C, Wobst J, Hadzic G, Drobnic K, Honda K, Hou Y, Zhou D, Li Y, Hu S, Chen S, Immel UD, Lessig R, Jakovski Z, Ilievska T, Klann AE, García CC, de Knijff P, Kraaijenbrink T, Kondili A, Miniati P, Vouropoulou M, Kovacevic L, Marjanovic D, Lindner I, Mansour I, Al-Azem M, Andari AE, Marino M, Furfuro S, Locarno L, Martín P, Luque GM, Alonso A, Miranda LS, Moreira H, Mizuno N, Iwashima Y, Neto RS, Nogueira TL, Silva R, Nastainczyk-Wulf M, Edelmann J, Kohl M, Nie S, Wang X, Cheng B, Núñez C, Pancorbo MM, Olofsson JK, Morling N, Onofri V, Tagliabracci A, Pamjav H, Volgyi A, Barany G, Pawlowski R, Maciejewska A, Pelotti S, Pepinski W, Abreu-Glowacka M, Phillips C, Cárdenas J, Rey-Gonzalez D, Salas A, Brisighelli F, Capelli C, Toscanini U, Piccinini A, Piglionica M, Baldassarra SL, Ploski R, Konarzewska M, Jastrzebska E, Robino C, Sajantila A, Palo JU, Guevara E, Salvador J, Ungria MC, Rodriguez JJ, Schmidt U, Schlauderer N, Saukko P, Schneider PM, Sirker M, Shin KJ, Oh YN, Skitsa I, Ampati A, Smith TG, Calvit LS, Stenzl V, Capal T, Tillmar A, Nilsson H, Turrina S, De Leo D, Verzeletti A, Cortellini V, Wetton JH, Gwynne GM, Jobling MA, Whittle MR, Sumita DR, Wolańska-Nowak P, Yong RY, Krawczak M, Nothnagel M, Roewer L. Purps J, et al. Forensic Sci Int Genet. 2014 Sep;12(100):12-23. doi: 10.1016/j.fsigen.2014.04.008. Epub 2014 Apr 28. Forensic Sci Int Genet. 2014. PMID: 24854874 Free PMC article.
Locus-specific allelic spectra of these markers were determined and a consistently high level of allelic diversity was observed. ...A strong correlation was observed between the number of Y-STRs included in a marker set and some of the forensic parameters und …
Locus-specific allelic spectra of these markers were determined and a consistently high level of allelic diversity was observed. ... …
Y chromosome microsatellite genetic variation in two Native American populations from Argentina: population stratification and mutation data.
Toscanini U, Gusmão L, Berardi G, Amorim A, Carracedo A, Salas A, Raimondi E. Toscanini U, et al. Forensic Sci Int Genet. 2008 Sep;2(4):274-80. doi: 10.1016/j.fsigen.2008.03.001. Epub 2008 May 7. Forensic Sci Int Genet. 2008. PMID: 19083836
A total of 34 and 16 different haplotypes were detected for Toba and Colla, respectively, the former with a haplotype diversity value of 0.9769+/-0.01, whereas 0.9497+/-0.02 for the latter. Significant population differences were observed between Colla and Toba, at
A total of 34 and 16 different haplotypes were detected for Toba and Colla, respectively, the former with a haplotype diversit
Testing for genetic structure in different urban Argentinian populations.
Toscanini U, Gusmão L, Berardi G, Amorim A, Carracedo A, Salas A, Raimondi E. Toscanini U, et al. Forensic Sci Int. 2007 Jan 5;165(1):35-40. doi: 10.1016/j.forsciint.2006.02.042. Epub 2006 Jul 17. Forensic Sci Int. 2007. PMID: 16846710
Fifteen autosomal short tandem repeat (STR) markers (D3S1358, HUMTH01, D21S11, D18S51, PENTA E, D5S818, D13S317, D7S820, D16S539, CSF1PO, PENTA D, HUMvWA, D8S1179, HUMTPOX, FGA) were analyzed in 1734 individuals living in urban areas of cities from six different Argentinian provi …
Fifteen autosomal short tandem repeat (STR) markers (D3S1358, HUMTH01, D21S11, D18S51, PENTA E, D5S818, D13S317, D7S820, D16S539, CSF1PO, PE …
Identification of West Eurasian mitochondrial haplogroups by mtDNA SNP screening: results of the 2006-2007 EDNAP collaborative exercise.
Parson W, Fendt L, Ballard D, Børsting C, Brinkmann B, Carracedo A, Carvalho M, Coble MD, Real FC, Desmyter S, Dupuy BM, Harrison C, Hohoff C, Just R, Krämer T, Morling N, Salas A, Schmitter H, Schneider PM, Sonntag ML, Vallone PM, Brandstätter A. Parson W, et al. Forensic Sci Int Genet. 2008 Jan;2(1):61-8. doi: 10.1016/j.fsigen.2007.08.007. Epub 2007 Sep 24. Forensic Sci Int Genet. 2008. PMID: 19083791
The European DNA Profiling (EDNAP) Group performed a collaborative exercise on a mitochondrial (mt) DNA screening assay that targeted 16 nucleotide positions in the coding region and allowed for the discrimination of major west Eurasian mtDNA haplogroups. ...The res …
The European DNA Profiling (EDNAP) Group performed a collaborative exercise on a mitochondrial (mt) DNA screening assay that t …
The natural selection that shapes our genomes.
Salas A. Salas A. Forensic Sci Int Genet. 2019 Mar;39:57-60. doi: 10.1016/j.fsigen.2018.12.003. Epub 2018 Dec 14. Forensic Sci Int Genet. 2019. PMID: 30578983
Most of the variation in the human genome (∼95%) is constrained, directly or indirectly, by purifying selection and GC-biased gene conversion, according to a recent article by Pouyet et al. (2018). ...
Most of the variation in the human genome (∼95%) is constrained, directly or indirectly, by purifying selection and GC-biased gene conversio …
Revealing latitudinal patterns of mitochondrial DNA diversity in Chileans.
Gómez-Carballa A, Moreno F, Álvarez-Iglesias V, Martinón-Torres F, García-Magariños M, Pantoja-Astudillo JA, Aguirre-Morales E, Bustos P, Salas A. Gómez-Carballa A, et al. Forensic Sci Int Genet. 2016 Jan;20:81-88. doi: 10.1016/j.fsigen.2015.10.002. Epub 2015 Oct 22. Forensic Sci Int Genet. 2016. PMID: 26517175
The territory of Chile is particularly long and narrow, which combined with its mountainous terrain, makes it a unique scenario for human genetic studies. ...The remaining haplotypes are mostly of recent European origin (∼11%), and only a minor proportion is of rece …
The territory of Chile is particularly long and narrow, which combined with its mountainous terrain, makes it a unique scenario for h …
A comprehensive Y-STR portrait of Argentinean populations.
Toscanini U, Vullo C, Berardi G, Llull C, Borosky A, Gómez A, Pardo-Seco J, Salas A. Toscanini U, et al. Forensic Sci Int Genet. 2016 Jan;20:1-5. doi: 10.1016/j.fsigen.2015.09.002. Epub 2015 Sep 8. Forensic Sci Int Genet. 2016. PMID: 26433179
A study of 23 Y-STRs was conducted in 257 individuals living in urban areas from eight Argentinean provinces. The data were meta-analyzed together with 364 profiles obtained from the literature that represent other five provinces. ...Overall, these results provide a
A study of 23 Y-STRs was conducted in 257 individuals living in urban areas from eight Argentinean provinces. The data were meta-anal
Ancestry analysis reveals a predominant Native American component with moderate European admixture in Bolivians.
Heinz T, Alvarez-Iglesias V, Pardo-Seco J, Taboada-Echalar P, Gómez-Carballa A, Torres-Balanza A, Rocabado O, Carracedo A, Vullo C, Salas A. Heinz T, et al. Forensic Sci Int Genet. 2013 Sep;7(5):537-42. doi: 10.1016/j.fsigen.2013.05.012. Epub 2013 Jul 11. Forensic Sci Int Genet. 2013. PMID: 23948324
With the exception of a few individuals, the results also indicated that Bolivians showed a predominantly Native American ancestry with variable levels of European admixture. ...The inferred ancestry of Bolivians fits well with previous studies undertaken on haploty …
With the exception of a few individuals, the results also indicated that Bolivians showed a predominantly Native American ance …
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