Phenotypic Classification of Eye Colour and Developmental Validation of the Irisplex System on Population Living in Malakand Division, Pakistan.
Biomedicines
Rahat, Murad Ali MA; Akbar, Fazal F; Rasool, Akhtar A; Ilyas, Muhammad M; Rakha, Allah A; Shams, Sulaiman S; Jelani, Musharraf M; Bibi, Fehmida F; Shirah, Bader H BH; Abdulkareem, Angham Abdulrhman AA; Naseer, Muhammad Imran MI; Israr, Muhammad M
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
Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.
Current Oncology (Toronto, Ont.)
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE
Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.
Current Oncology (Toronto, Ont.)
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE
A large Canadian cohort provides insights into the genetic architecture of human hair colour.
Communications Biology
Lona-Durazo, Frida F; Mendes, Marla M; Thakur, Rohit R; Funderburk, Karen K; Zhang, Tongwu T; Kovacs, Michael A MA; Choi, Jiyeon J; Brown, Kevin M KM; Parra, Esteban J EJ
Searching for improvements in predicting human eye colour from DNA.
International Journal Of Legal Medicine
Kukla-Bartoszek, Magdalena M; Teisseyre, Paweł P; Pośpiech, Ewelina E; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Płoski, Rafał R; Grzybowski, Tomasz T; Spólnicka, Magdalena M; Mielniczuk, Jan J; Branicki, Wojciech W
Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.
Plos Genetics
Currant, Hannah H; Hysi, Pirro P; Fitzgerald, Tomas W TW; Gharahkhani, Puya P; Bonnemaijer, Pieter W M PWM; Senabouth, Anne A; Hewitt, Alex W AW; , ; , ; Atan, Denize D; Aung, Tin T; Charng, Jason J; Choquet, Hélène H; Craig, Jamie J; Khaw, Peng T PT; Klaver, Caroline C W CCW; Kubo, Michiaki M; Ong, Jue-Sheng JS; Pasquale, Louis R LR; Reisman, Charles A CA; Daniszewski, Maciej M; Powell, Joseph E JE; Pébay, Alice A; Simcoe, Mark J MJ; Thiadens, Alberta A H J AAHJ; van Duijn, Cornelia M CM; Yazar, Seyhan S; Jorgenson, Eric E; MacGregor, Stuart S; Hammond, Chris J CJ; Mackey, David A DA; Wiggs, Janey L JL; Foster, Paul J PJ; Patel, Praveen J PJ; Birney, Ewan E; Khawaja, Anthony P AP
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.
Science Advances
Simcoe, Mark M; Valdes, Ana A; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Hemani, Gibran G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Vuckovic, Dragana D; Girotto, Giorgia G; Sala, Cinzia C; Catamo, Eulalia E; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex A; Wu, Wenting W; Kraft, Peter P; Hammond, Christopher J CJ; Shi, Yuan Y; Chen, Yan Y; Zeng, Changqing C; Klaver, Caroline C W CCW; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Han, Jiali J; Mackey, David A DA; Martin, Nicholas G NG; Cheng, Ching-Yu CY; , ; , ; Hinds, David A DA; Spector, Timothy D TD; Kayser, Manfred M; Hysi, Pirro G PG
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.
Science Advances
Simcoe, Mark M; Valdes, Ana A; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Hemani, Gibran G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Vuckovic, Dragana D; Girotto, Giorgia G; Sala, Cinzia C; Catamo, Eulalia E; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex A; Wu, Wenting W; Kraft, Peter P; Hammond, Christopher J CJ; Shi, Yuan Y; Chen, Yan Y; Zeng, Changqing C; Klaver, Caroline C W CCW; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Han, Jiali J; Mackey, David A DA; Martin, Nicholas G NG; Cheng, Ching-Yu CY; , ; , ; Hinds, David A DA; Spector, Timothy D TD; Kayser, Manfred M; Hysi, Pirro G PG
Germline variants are associated with increased primary melanoma tumor thickness at diagnosis.
Human Molecular Genetics
Mangantig, Ernest E; MacGregor, Stuart S; Iles, Mark M MM; Scolyer, Richard A RA; Cust, Anne E AE; Hayward, Nicholas K NK; Montgomery, Grant W GW; Duffy, David L DL; Thompson, John F JF; Henders, Anjali A; Bowdler, Lisa L; Rowe, Casey C; Cadby, Gemma G; Mann, Graham J GJ; Whiteman, David C DC; Long, Georgina V GV; Ward, Sarah V SV; Khosrotehrani, Kiarash K; Barrett, Jennifer H JH; Law, Matthew H MH
Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations.
Communications Biology
Jorgenson, Eric E; Choquet, Hélène H; Yin, Jie J; Hoffmann, Thomas J TJ; Banda, Yambazi Y; Kvale, Mark N MN; Risch, Neil N; Schaefer, Catherine C; Asgari, Maryam M MM
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
Plos One
Rayner, Jenna E JE; Duffy, David L DL; Smit, Darren J DJ; Jagirdar, Kasturee K; Lee, Katie J KJ; De'Ambrosis, Brian B; Smithers, B Mark BM; McMeniman, Erin K EK; McInerney-Leo, Aideen M AM; Schaider, Helmut H; Stark, Mitchell S MS; Soyer, H Peter HP; Sturm, Richard A RA
The distinctive geographic patterns of common pigmentation variants at the OCA2 gene.
Scientific Reports
Kidd, Kenneth K KK; Pakstis, Andrew J AJ; Donnelly, Michael P MP; Bulbul, Ozlem O; Cherni, Lotfi L; Gurkan, Cemal C; Kang, Longli L; Li, Hui H; Yun, Libing L; Paschou, Peristera P; Meiklejohn, Kelly A KA; Haigh, Eva E; Speed, William C WC
Publication Date: 2020-09-22
Variant appearance in text: OCA2: Arg419Gln; rs1800407
Association of Known Melanoma Risk Factors with Primary Melanoma of the Scalp and Neck.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Wood, Renee P RP; Heyworth, Jane S JS; McCarthy, Nina S NS; Mauguen, Audrey A; Berwick, Marianne M; Thomas, Nancy E NE; Millward, Michael J MJ; Anton-Culver, Hoda H; Cust, Anne E AE; Dwyer, Terence T; Gallagher, Richard P RP; Gruber, Stephen B SB; Kanetsky, Peter A PA; Orlow, Irene I; Rosso, Stefano S; Moses, Eric K EK; Begg, Colin B CB; Ward, Sarah V SV
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
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
Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma.
Nature Communications
Sarin, Kavita Y KY; Lin, Yuan Y; Daneshjou, Roxana R; Ziyatdinov, Andrey A; Thorleifsson, Gudmar G; Rubin, Adam A; Pardo, Luba M LM; Wu, Wenting W; Khavari, Paul A PA; Uitterlinden, Andre A; Nijsten, Tamar T; Toland, Amanda E AE; Olafsson, Jon H JH; Sigurgeirsson, Bardur B; Thorisdottir, Kristin K; Jorgensen, Eric E; Whittemore, Alice S AS; Kraft, Peter P; Stacey, Simon N SN; Stefansson, Kari K; Asgari, Maryam M MM; Han, Jiali J
Inherited Melanoma Risk Variants Associated with Histopathologically Amelanotic Melanoma.
The Journal Of Investigative Dermatology
Gibbs, David Corley DC; Orlow, Irene I; Vernali, Steven S; Powell, Helen B HB; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Armstrong, Bruce K BK; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE; ,
"The dead shall be raised": Multidisciplinary analysis of human skeletons reveals complexity in 19th century immigrant socioeconomic history and identity in New Haven, Connecticut.
Plos One
Aronsen, Gary P GP; Fehren-Schmitz, Lars L; Krigbaum, John J; Kamenov, George D GD; Conlogue, Gerald J GJ; Warinner, Christina C; Ozga, Andrew T AT; Sankaranarayanan, Krithivasan K; Griego, Anthony A; DeLuca, Daniel W DW; Eckels, Howard T HT; Byczkiewicz, Romuald K RK; Grgurich, Tania T; Pelletier, Natalie A NA; Brownlee, Sarah A SA; Marichal, Ana A; Williamson, Kylie K; Tonoike, Yukiko Y; Bellantoni, Nicholas F NF
Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations.
Bmc Genetics
Lona-Durazo, Frida F; Hernandez-Pacheco, Natalia N; Fan, Shaohua S; Zhang, Tongwu T; Choi, Jiyeon J; Kovacs, Michael A MA; Loftus, Stacie K SK; Le, Phuong P; Edwards, Melissa M; Fortes-Lima, Cesar A CA; Eng, Celeste C; Huntsman, Scott S; Hu, Donglei D; Gómez-Cabezas, Enrique Javier EJ; Marín-Padrón, Lilia Caridad LC; Grauholm, Jonas J; Mors, Ole O; Burchard, Esteban G EG; Norton, Heather L HL; Pavan, William J WJ; Brown, Kevin M KM; Tishkoff, Sarah S; Pino-Yanes, Maria M; Beleza, Sandra S; Marcheco-Teruel, Beatriz B; Parra, Esteban J EJ
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: OCA2: R419Q; rs1800407
A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.
Human Molecular Genetics
Zorina-Lichtenwalter, Katerina K; Lichtenwalter, Ryan N RN; Zaykin, Dima V DV; Parisien, Marc M; Gravel, Simon S; Bortsov, Andrey A; Diatchenko, Luda L