Beringia and the peopling of the Western Hemisphere.
Proceedings. Biological Sciences
Hoffecker, John F JF; Elias, Scott A SA; Scott, G Richard GR; O'Rourke, Dennis H DH; Hlusko, Leslea J LJ; Potapova, Olga O; Pitulko, Vladimir V; Pavlova, Elena E; Bourgeon, Lauriane L; Vachula, Richard S RS
Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel.
Plos One
Rauf, Sobiah S; Austin, Jeremy J JJ; Higgins, Denice D; Khan, Muhammad Ramzan MR
PopHumanVar: an interactive application for the functional characterization and prioritization of adaptive genomic variants in humans.
Nucleic Acids Research
Colomer-Vilaplana, Aina A; Murga-Moreno, Jesús J; Canalda-Baltrons, Aleix A; Inserte, Clara C; Soto, Daniel D; Coronado-Zamora, Marta M; Barbadilla, Antonio A; Casillas, Sònia S
Publication Date: 2021-10-19
Variant appearance in text: EDAR: Val370Ala; rs3827760
PopHumanVar: an interactive application for the functional characterization and prioritization of adaptive genomic variants in humans.
Nucleic Acids Research
Colomer-Vilaplana, Aina A; Murga-Moreno, Jesús J; Canalda-Baltrons, Aleix A; Inserte, Clara C; Soto, Daniel D; Coronado-Zamora, Marta M; Barbadilla, Antonio A; Casillas, Sònia S
Publication Date: 2022-01-07
Variant appearance in text: EDAR: Val370Ala; rs3827760
Association of EDARV370A with breast density and metabolic syndrome in Latinos.
Plos One
Coletta, Dawn K DK; Hlusko, Leslea J LJ; Scott, G Richard GR; Garcia, Luis A LA; Vachon, Celine M CM; Norman, Aaron D AD; Funk, Janet L JL; Shaibi, Gabriel Q GQ; Hernandez, Valentina V; De Filippis, Eleanna E; Mandarino, Lawrence J LJ
Fine-Scale Genetic Structure and Natural Selection Signatures of Southwestern Hans Inferred From Patterns of Genome-Wide Allele, Haplotype, and Haplogroup Lineages.
Development and Evaluation of the Ancestry Informative Marker Panel of the VISAGE Basic Tool.
Genes
de la Puente, María M; Ruiz-Ramírez, Jorge J; Ambroa-Conde, Adrián A; Xavier, Catarina C; Pardo-Seco, Jacobo J; Álvarez-Dios, Jose J; Freire-Aradas, Ana A; Mosquera-Miguel, Ana A; Gross, Theresa E TE; Cheung, Elaine Y Y EYY; Branicki, Wojciech W; Nothnagel, Michael M; Parson, Walther W; Schneider, Peter M PM; Kayser, Manfred M; Carracedo, Ángel Á; Lareu, Maria Victoria MV; Phillips, Christopher C; On Behalf Of The Visage Consortium,
A genome sequence from a modern human skull over 45,000 years old from Zlatý kůň in Czechia.
Nature Ecology & Evolution
Prüfer, Kay K; Posth, Cosimo C; Yu, He H; Stoessel, Alexander A; Spyrou, Maria A MA; Deviese, Thibaut T; Mattonai, Marco M; Ribechini, Erika E; Higham, Thomas T; Velemínský, Petr P; Brůžek, Jaroslav J; Krause, Johannes J
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: EDAR: 1109T>C; V370A; rs3827760
No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia.
Orphanet Journal Of Rare Diseases
Körber, Laura L; Schneider, Holm H; Fleischer, Nicole N; Maier-Wohlfart, Sigrun S
Publication Date: 2021-02-23
Variant appearance in text: EDAR: 1109T>C; Val370Ala; rs3827760
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.
Bmc Genomics
Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W
Genome-Wide Association of Kidney Traits in Hispanics/Latinos Using Dense Imputed Whole-Genome Sequencing Data: The Hispanic Community Health Study/Study of Latinos.
Circulation. Genomic And Precision Medicine
Qian, Huijun H; Kowalski, Madeline H MH; Kramer, Holly J HJ; Tao, Ran R; Lash, James P JP; Stilp, Adrienne M AM; Cai, Jianwen J; Li, Yun Y; Franceschini, Nora N
Ancestry Prediction Comparisons of Different AISNPs for Five Continental Populations and Population Structure Dissection of the Xinjiang Hui Group via a Self-Developed Panel.
Corded Ware cultural complexity uncovered using genomic and isotopic analysis from south-eastern Poland.
Scientific Reports
Linderholm, Anna A; Kılınç, Gülşah Merve GM; Szczepanek, Anita A; Włodarczak, Piotr P; Jarosz, Paweł P; Belka, Zdzislaw Z; Dopieralska, Jolanta J; Werens, Karolina K; Górski, Jacek J; Mazurek, Mirosław M; Hozer, Monika M; Rybicka, Małgorzata M; Ostrowski, Mikołaj M; Bagińska, Jolanta J; Koman, Wiesław W; Rodríguez-Varela, Ricardo R; Storå, Jan J; Götherström, Anders A; Krzewińska, Maja M
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: EDAR: V370A; rs3827760
Genetic architecture and adaptations of Nunavik Inuit.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhou, Sirui S; Xie, Pingxing P; Quoibion, Amélie A; Ambalavanan, Amirthagowri A; Dionne-Laporte, Alexandre A; Spiegelman, Dan D; Bourassa, Cynthia V CV; Xiong, Lan L; Dion, Patrick A PA; Rouleau, Guy A GA