Publications:

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Accuracy of Eye and Hair Color Prediction in Mexican Mestizos from Monterrey City Based on ForenSeqTM DNA Signature Prep.

Genes

Aguilar-Velázquez, José Alonso JA; Llamas-de-Dios, Blanca Jeannete BJ; Córdova-Mercado, Miranda Fabiola MF; Coronado-Ávila, Carolina Elena CE; Salas-Salas, Orlando O; López-Quintero, Andrés A; Ramos-González, Benito B; Rangel-Villalobos, Héctor H

Publication Date: 2023-05-22

Variant appearance in text: rs12203592

PubMed Link: 37239480

Variant Present in the following documents:

• genes-14-01120.pdf

View BVdb publication page

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Role of Single Nucleotide Polymorphism-Related Genes in Tumour Immune Cell Infiltration and Prognosis of Cutaneous Melanoma.

Biomed Research International

Wang, Baihe B; Liu, Fanxiao F; Li, Yuanyuan Y; Chen, Nan N

Publication Date: 2023

Variant appearance in text: rs12203592

PubMed Link: 37205232

Variant Present in the following documents:

• BMRI2023-3754094.pdf

View BVdb publication page

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Fine-mapping of retinal vascular complexity loci identifies Notch regulation as a shared mechanism with myocardial infarction outcomes.

Communications Biology

Villaplana-Velasco, Ana A; Pigeyre, Marie M; Engelmann, Justin J; Rawlik, Konrad K; Canela-Xandri, Oriol O; Tochel, Claire C; Lona-Durazo, Frida F; Mookiah, Muthu Rama Krishnan MRK; Doney, Alex A; Parra, Esteban J EJ; Trucco, Emanuele E; MacGillivray, Tom T; Rannikmae, Kristiina K; Tenesa, Albert A; Pairo-Castineira, Erola E; Bernabeu, Miguel O MO

Publication Date: 2023-05-15

Variant appearance in text: rs12203592

PubMed Link: 37188768

Variant Present in the following documents:

• Main text
• 42003_2023_Article_4836.pdf

View BVdb publication page

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Molecular Alterations in Cutaneous Squamous Cell Carcinoma in Immunocompetent and Immunosuppressed Hosts-A Systematic Review.

Cancers

Tsang, Denise Ann DA; Tam, Steve Y C SYC; Oh, Choon Chiat CC

Publication Date: 2023-03-17

Variant appearance in text: rs12203592

PubMed Link: 36980718

Variant Present in the following documents:

• Main text
• cancers-15-01832.pdf

View BVdb publication page

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Human genetic history on the Tibetan Plateau in the past 5100 years.

Science Advances

Wang, Hongru H; Yang, Melinda A MA; Wangdue, Shargan S; Lu, Hongliang H; Chen, Honghai H; Li, Linhui L; Dong, Guanghui G; Tsring, Tinley T; Yuan, Haibing H; He, Wei W; Ding, Manyu M; Wu, Xiaohong X; Li, Shuai S; Tashi, Norbu N; Yang, Tsho T; Yang, Feng F; Tong, Yan Y; Chen, Zujun Z; He, Yuanhong Y; Cao, Peng P; Dai, Qingyan Q; Liu, Feng F; Feng, Xiaotian X; Wang, Tianyi T; Yang, Ruowei R; Ping, Wanjing W; Zhang, Zhaoxia Z; Gao, Yang Y; Zhang, Ming M; Wang, Xiaoji X; Zhang, Chao C; Yuan, Kai K; Ko, Albert Min-Shan AM; Aldenderfer, Mark M; Gao, Xing X; Xu, Shuhua S; Fu, Qiaomei Q

Publication Date: 2023-03-15

Variant appearance in text: rs12203592

PubMed Link: 36930720

Variant Present in the following documents:

• sciadv.add5582_sm.pdf

View BVdb publication page

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The relationship between single nucleotide polymorphisms and skin cancer susceptibility: A systematic review and network meta-analysis.

Frontiers In Oncology

Zhang, Lu L; Pozsgai, Éva É; Song, Yongan Y; Macharia, John J; Alfatafta, Huda H; Zheng, Jia J; Li, Zhaoyi Z; Liu, Hongbo H; Kiss, István I

Publication Date: 2023

Variant appearance in text: rs12203592

PubMed Link: 36874118

Variant Present in the following documents:

• fonc-13-1094309.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: IRF4: 492+386C>T

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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The evolution of human skin pigmentation: A changing medley of vitamins, genetic variability, and UV radiation during human expansion.

American Journal Of Biological Anthropology

Lucock, Mark D MD

Publication Date: 2023-02

Variant appearance in text: rs12203592

PubMed Link: 36790744

Variant Present in the following documents:

• Main text
• AJPA-180-252.pdf

View BVdb publication page

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Genetic scores for predicting longevity in the Croatian oldest-old population.

Plos One

Šetinc, Maja M; Celinšćak, Željka Ž; Bočkor, Luka L; Ćorić, Tanja T; Kolarić, Branko B; Stojanović Marković, Anita A; Zajc Petranović, Matea M; Peričić Salihović, Marijana M; Smolej Narančić, Nina N; Škarić-Jurić, Tatjana T

Publication Date: 2023

Variant appearance in text: rs12203592

PubMed Link: 36735720

Variant Present in the following documents:

• Main text
• pone.0279971.pdf

View BVdb publication page

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Human profiling from STR and SNP analysis of tropical bed bug, Cimex hemipterus, for forensic science.

Scientific Reports

Lim, Li L; Ab Majid, Abdul Hafiz AH

Publication Date: 2023-01-27

Variant appearance in text: rs12203592

PubMed Link: 36707655

Variant Present in the following documents:

• Main text
• 41598_2023_Article_28774.pdf

View BVdb publication page

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Skin Phototype and Disease: A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy Using PRS in the GCAT Cohort.

Genes

Farré, Xavier X; Blay, Natalia N; Cortés, Beatriz B; Carreras, Anna A; Iraola-Guzmán, Susana S; de Cid, Rafael R

Publication Date: 2023-01-05

Variant appearance in text: rs12203592

PubMed Link: 36672889

Variant Present in the following documents:

• Main text
• genes-14-00149.pdf

View BVdb publication page

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Pancan-MNVQTLdb: systematic identification of multi-nucleotide variant quantitative trait loci in 33 cancer types.

Nar Cancer

Wang, Dongyang D; Cao, Wen W; Yang, Wenqian W; Jin, Weiwei W; Luo, Haohui H; Niu, Xiaohui X; Gong, Jing J

Publication Date: 2022-12

Variant appearance in text: rs12203592

PubMed Link: 36568962

Variant Present in the following documents:

• Main text
• zcac043.pdf

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A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma.

Nature Communications

Seviiri, Mathias M; Law, Matthew H MH; Ong, Jue-Sheng JS; Gharahkhani, Puya P; Fontanillas, Pierre P; , ; Olsen, Catherine M CM; Whiteman, David C DC; MacGregor, Stuart S

Publication Date: 2022-12-10

Variant appearance in text: rs12203592

PubMed Link: 36496446

Variant Present in the following documents:

• Main text
• 41467_2022_35345_MOESM2_ESM.pdf
• 41467_2022_Article_35345.pdf

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs12203592

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Predicting Eye and Hair Color in a Turkish Population Using the HIrisPlex System.

Genes

Sari O, Ilksen I; Simsek, Sumeyye Zulal SZ; Filoglu, Gonul G; Bulbul, Ozlem O

Publication Date: 2022-11-11

Variant appearance in text: rs12203592

PubMed Link: 36421769

Variant Present in the following documents:

• Main text
• genes-13-02094.pdf

View BVdb publication page

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Evolutionary Origins of Metabolic Reprogramming in Cancer.

International Journal Of Molecular Sciences

García-Sancha, Natalia N; Corchado-Cobos, Roberto R; Gómez-Vecino, Aurora A; Jiménez-Navas, Alejandro A; Pérez-Baena, Manuel Jesús MJ; Blanco-Gómez, Adrián A; Holgado-Madruga, Marina M; Mao, Jian-Hua JH; Cañueto, Javier J; Castillo-Lluva, Sonia S; Mendiburu-Eliçabe, Marina M; Pérez-Losada, Jesús J

Publication Date: 2022-10-11

Variant appearance in text: rs12203592

PubMed Link: 36292921

Variant Present in the following documents:

• ijms-23-12063.pdf

View BVdb publication page

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Evaluation of Personalized Skincare Through in-silico Gene Interactive Networks and Cellular Responses to UVR and Oxidative Stress.

Clinical, Cosmetic And Investigational Dermatology

Markiewicz, Ewa E; Idowu, Olusola C OC

Publication Date: 2022

Variant appearance in text: rs12203592

PubMed Link: 36284733

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cost-effective methylome sequencing of cell-free DNA for accurately detecting and locating cancer.

Nature Communications

Stackpole, Mary L ML; Zeng, Weihua W; Li, Shuo S; Liu, Chun-Chi CC; Zhou, Yonggang Y; He, Shanshan S; Yeh, Angela A; Wang, Ziye Z; Sun, Fengzhu F; Li, Qingjiao Q; Yuan, Zuyang Z; Yildirim, Asli A; Chen, Pin-Jung PJ; Winograd, Paul P; Tran, Benjamin B; Lee, Yi-Te YT; Li, Paul Shize PS; Noor, Zorawar Z; Yokomizo, Megumi M; Ahuja, Preeti P; Zhu, Yazhen Y; Tseng, Hsian-Rong HR; Tomlinson, James S JS; Garon, Edward E; French, Samuel S; Magyar, Clara E CE; Dry, Sarah S; Lajonchere, Clara C; Geschwind, Daniel D; Choi, Gina G; Saab, Sammy S; Alber, Frank F; Wong, Wing Hung WH; Dubinett, Steven M SM; Aberle, Denise R DR; Agopian, Vatche V; Han, Steven-Huy B SB; Ni, Xiaohui X; Li, Wenyuan W; Zhou, Xianghong Jasmine XJ

Publication Date: 2022-09-29

Variant appearance in text: rs12203592

PubMed Link: 36175411

Variant Present in the following documents:

• 41467_2022_32995_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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Interpretation of the role of germline and somatic non-coding mutations in cancer: expression and chromatin conformation informed analysis.

Clinical Epigenetics

Pudjihartono, Michael M; Perry, Jo K JK; Print, Cris C; O'Sullivan, Justin M JM; Schierding, William W

Publication Date: 2022-09-28

Variant appearance in text: rs12203592

PubMed Link: 36171609

Variant Present in the following documents:

• Main text
• 13148_2022_Article_1342.pdf

View BVdb publication page

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Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative.

Genome Medicine

Johnson, Ruth R; Ding, Yi Y; Venkateswaran, Vidhya V; Bhattacharya, Arjun A; Boulier, Kristin K; Chiu, Alec A; Knyazev, Sergey S; Schwarz, Tommer T; Freund, Malika M; Zhan, Lingyu L; Burch, Kathryn S KS; Caggiano, Christa C; Hill, Brian B; Rakocz, Nadav N; Balliu, Brunilda B; Denny, Christopher T CT; Sul, Jae Hoon JH; Zaitlen, Noah N; Arboleda, Valerie A VA; Halperin, Eran E; Sankararaman, Sriram S; Butte, Manish J MJ; , ; Lajonchere, Clara C; Geschwind, Daniel H DH; Pasaniuc, Bogdan B

Publication Date: 2022-09-09

Variant appearance in text: rs12203592

PubMed Link: 36085083

Variant Present in the following documents:

• Main text
• 13073_2022_Article_1106.pdf

View BVdb publication page

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A new approach to broaden the range of eye colour identifiable by IrisPlex in DNA phenotyping.

Scientific Reports

Paparazzo, Ersilia E; Gozalishvili, Anzor A; Lagani, Vincenzo V; Geracitano, Silvana S; Bauleo, Alessia A; Falcone, Elena E; Passarino, Giuseppe G; Montesanto, Alberto A

Publication Date: 2022-07-27

Variant appearance in text: rs12203592

PubMed Link: 35896692

Variant Present in the following documents:

• Main text
• 41598_2022_Article_17208.pdf

View BVdb publication page

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Investigating the genetic architecture of eye colour in a Canadian cohort.

Iscience

Lona-Durazo, Frida F; Thakur, Rohit R; Pairo-Castineira, Erola E; Funderburk, Karen K; Zhang, Tongwu T; Kovacs, Michael A MA; Choi, Jiyeon J; Jackson, Ian J IJ; Brown, Kevin M KM; Parra, Esteban J EJ

Publication Date: 2022-06-17

Variant appearance in text: rs12203592

PubMed Link: 35712076

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Common genetic variants associated with melanoma risk or naevus count in patients with wildtype MC1R melanoma.

The British Journal Of Dermatology

Calbet-Llopart, Neus N; Combalia, Marc M; Kiroglu, Anil A; Potrony, Miriam M; Tell-Martí, Gemma G; Combalia, Andrea A; Brugues, Albert A; Podlipnik, Sebastian S; Carrera, Cristina C; Puig, Susana S; Malvehy, Josep J; Puig-Butillé, Joan Anton JA

Publication Date: 2022-11

Variant appearance in text: rs12203592

PubMed Link: 35701387

Variant Present in the following documents:

• Main text
• BJD-187-753.pdf

View BVdb publication page

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Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways.

Communications Biology

Kim, Yuhree Y; Yin, Jie J; Huang, Hailiang H; Jorgenson, Eric E; Choquet, Hélène H; Asgari, Maryam M MM

Publication Date: 2022-04-21

Variant appearance in text: rs12203592

PubMed Link: 35449187

Variant Present in the following documents:

• Main text
• 42003_2022_Article_3301.pdf
• 42003_2022_3301_MOESM1_ESM.pdf

View BVdb publication page

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Genomic diversity and post-admixture adaptation in the Uyghurs.

National Science Review

Pan, Yuwen Y; Zhang, Chao C; Lu, Yan Y; Ning, Zhilin Z; Lu, Dongsheng D; Gao, Yang Y; Zhao, Xiaohan X; Yang, Yajun Y; Guan, Yaqun Y; Mamatyusupu, Dolikun D; Xu, Shuhua S

Publication Date: 2022-03

Variant appearance in text: rs12203592

PubMed Link: 35350227

Variant Present in the following documents:

• nwab124_supplemental_file.pdf

View BVdb publication page

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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

Publication Date: 2022

Variant appearance in text: rs12203592

PubMed Link: 35176104

Variant Present in the following documents:

• Main text
• pone.0264125.pdf

View BVdb publication page

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Predicting Physical Appearance from DNA Data-Towards Genomic Solutions.

Genes

Pośpiech, Ewelina E; Teisseyre, Paweł P; Mielniczuk, Jan J; Branicki, Wojciech W

Publication Date: 2022-01-10

Variant appearance in text: rs12203592

PubMed Link: 35052461

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predicting Physical Appearance from DNA Data-Towards Genomic Solutions.

Genes

Pośpiech, Ewelina E; Teisseyre, Paweł P; Mielniczuk, Jan J; Branicki, Wojciech W

Publication Date: 2022-01-10

Variant appearance in text: rs12203592

PubMed Link: 35052461

Variant Present in the following documents:

• Main text

View BVdb publication page

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An annotated dataset for extracting gene-melanoma relations from scientific literature.

Journal Of Biomedical Semantics

Zanoli, Roberto R; Lavelli, Alberto A; Löffler, Theresa T; Perez Gonzalez, Nicolas Andres NA; Rinaldi, Fabio F

Publication Date: 2022-01-19

Variant appearance in text: rs12203592

PubMed Link: 35045882

Variant Present in the following documents:

• Main text
• 13326_2021_Article_251.pdf

View BVdb publication page

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An annotated dataset for extracting gene-melanoma relations from scientific literature.

Journal Of Biomedical Semantics

Zanoli, Roberto R; Lavelli, Alberto A; Löffler, Theresa T; Perez Gonzalez, Nicolas Andres NA; Rinaldi, Fabio F

Publication Date: 2022-01-19

Variant appearance in text: rs12203592

PubMed Link: 35045882

Variant Present in the following documents:

• Main text
• 13326_2021_Article_251.pdf

View BVdb publication page

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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

Publication Date: 2021-11-16

Variant appearance in text: rs12203592

PubMed Link: 34898573

Variant Present in the following documents:

• Main text
• curroncol-28-00401.pdf

View BVdb publication page

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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

Publication Date: 2021-11-16

Variant appearance in text: rs12203592

PubMed Link: 34898573

Variant Present in the following documents:

• Main text
• curroncol-28-00401.pdf

View BVdb publication page

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Detection of genomic structure variants associated with wrinkled skin in Xiang pig by next generation sequencing.

Aging

Xiaoli, Liu L; Fengbin, Hu H; Shihui, Huang H; Xi, Niu N; Sheng, Li L; Zhou, Wang W; Xueqin, Ran R; Jiafu, Wang W

Publication Date: 2021-11-27

Variant appearance in text: rs12203592

PubMed Link: 34837693

Variant Present in the following documents:

• Main text

View BVdb publication page

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Detection of genomic structure variants associated with wrinkled skin in Xiang pig by next generation sequencing.

Aging

Xiaoli, Liu L; Fengbin, Hu H; Shihui, Huang H; Xi, Niu N; Sheng, Li L; Zhou, Wang W; Xueqin, Ran R; Jiafu, Wang W

Publication Date: 2021-11-27

Variant appearance in text: rs12203592

PubMed Link: 34837693

Variant Present in the following documents:

• Main text

View BVdb publication page

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Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers.

Scientific Reports

Suarez, Philippe P; Baumer, Karine K; Hall, Diana D

Publication Date: 2021-11-18

Variant appearance in text: rs12203592

PubMed Link: 34795370

Variant Present in the following documents:

• Main text
• 41598_2021_Article_1940.pdf

View BVdb publication page

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Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers.

Scientific Reports

Suarez, Philippe P; Baumer, Karine K; Hall, Diana D

Publication Date: 2021-11-18

Variant appearance in text: rs12203592

PubMed Link: 34795370

Variant Present in the following documents:

• Main text
• 41598_2021_Article_1940.pdf

View BVdb publication page

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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

Publication Date: 2021-11-04

Variant appearance in text: rs12203592

PubMed Link: 34737440

Variant Present in the following documents:

• Main text
• 42003_2021_Article_2764.pdf
• 42003_2021_2764_MOESM2_ESM.pdf

View BVdb publication page

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Pushing the Boundaries: Forensic DNA Phenotyping Challenged by Single-Cell Sequencing.

Genes

Diepenbroek, Marta M; Bayer, Birgit B; Anslinger, Katja K

Publication Date: 2021-08-30

Variant appearance in text: rs12203592

PubMed Link: 34573344

Variant Present in the following documents:

• genes-12-01362.pdf

View BVdb publication page

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Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas.

Journal Of The National Cancer Institute

Mobuchon, Lenha L; Derrien, Anne-Céline AC; Houy, Alexandre A; Verrier, Thibault T; Pierron, Gaëlle G; Cassoux, Nathalie N; Milder, Maud M; Deleuze, Jean-François JF; Boland, Anne A; Scelo, Ghislaine G; Cancel-Tassin, Géraldine G; Cussenot, Olivier O; Rodrigues, Manuel M; Noirel, Josselin J; Machiela, Mitchell J MJ; Stern, Marc-Henri MH

Publication Date: 2022-02-07

Variant appearance in text: rs12203592

PubMed Link: 34424336

Variant Present in the following documents:

• Main text

View BVdb publication page

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Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas.

Journal Of The National Cancer Institute

Mobuchon, Lenha L; Derrien, Anne-Céline AC; Houy, Alexandre A; Verrier, Thibault T; Pierron, Gaëlle G; Cassoux, Nathalie N; Milder, Maud M; Deleuze, Jean-François JF; Boland, Anne A; Scelo, Ghislaine G; Cancel-Tassin, Géraldine G; Cussenot, Olivier O; Rodrigues, Manuel M; Noirel, Josselin J; Machiela, Mitchell J MJ; Stern, Marc-Henri MH

Publication Date: 2021-08-23

Variant appearance in text: rs12203592

PubMed Link: 34424336

Variant Present in the following documents:

• Main text

View BVdb publication page

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Review of the Molecular Genetics of Basal Cell Carcinoma; Inherited Susceptibility, Somatic Mutations, and Targeted Therapeutics.

Cancers

Kilgour, James M JM; Jia, Justin L JL; Sarin, Kavita Y KY

Publication Date: 2021-07-31

Variant appearance in text: rs12203592

PubMed Link: 34359772

Variant Present in the following documents:

• Main text
• cancers-13-03870.pdf

View BVdb publication page

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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

Publication Date: 2021-11

Variant appearance in text: rs12203592

PubMed Link: 34259936

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-Wide Association Analyses Identify Variants in IRF4 Associated With Acute Myeloid Leukemia and Myelodysplastic Syndrome Susceptibility.

Frontiers In Genetics

Wang, Junke J; Clay-Gilmour, Alyssa I AI; Karaesmen, Ezgi E; Rizvi, Abbas A; Zhu, Qianqian Q; Yan, Li L; Preus, Leah L; Liu, Song S; Wang, Yiwen Y; Griffiths, Elizabeth E; Stram, Daniel O DO; Pooler, Loreall L; Sheng, Xin X; Haiman, Christopher C; Van Den Berg, David D; Webb, Amy A; Brock, Guy G; Spellman, Stephen S; Pasquini, Marcelo M; McCarthy, Philip P; Allan, James J; Stölzel, Friedrich F; Onel, Kenan K; Hahn, Theresa T; Sucheston-Campbell, Lara E LE

Publication Date: 2021

Variant appearance in text: rs12203592

PubMed Link: 34220922

Variant Present in the following documents:

• Main text
• fgene-12-554948.pdf

View BVdb publication page

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Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set.

Genes

Meyer, Olivia Strunge OS; Salvo, Nina Mjølsnes NM; Kjærbye, Anne A; Kjersem, Marianne M; Andersen, Mikkel Meyer MM; Sørensen, Erik E; Ullum, Henrik H; Janssen, Kirstin K; Morling, Niels N; Børsting, Claus C; Olsen, Gunn-Hege GH; Andersen, Jeppe Dyrberg JD

Publication Date: 2021-05-27

Variant appearance in text: rs12203592

PubMed Link: 34071952

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identifying Susceptibility Loci for Cutaneous Squamous Cell Carcinoma Using a Fast Sequence Kernel Association Test.

Frontiers In Genetics

Huang, Manyan M; Lyu, Chen C; Li, Xin X; Qureshi, Abrar A AA; Han, Jiali J; Li, Ming M

Publication Date: 2021

Variant appearance in text: rs12203592

PubMed Link: 34040636

Variant Present in the following documents:

• Main text

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Identification of methylation changes associated with positive and negative growth deviance in Gambian infants using a targeted methyl sequencing approach of genomic DNA.

Faseb Bioadvances

Quilter, Claire R CR; Harvey, Kerry M KM; Bauer, Julien J; Skinner, Benjamin M BM; Gomez, Maria M; Shrivastava, Manu M; Doel, Andrew M AM; Drammeh, Saikou S; Dunger, David B DB; Moore, Sophie E SE; Ong, Ken K KK; Prentice, Andrew M AM; Bernstein, Robin M RM; Sargent, Carole A CA; Affara, Nabeel A NA

Publication Date: 2021-04

Variant appearance in text: rs12203592

PubMed Link: 33842847

Variant Present in the following documents:

• FBA2-3-205-s004.xlsx, sheet 4

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Common genetic polymorphisms contribute to the association between chronic lymphocytic leukaemia and non-melanoma skin cancer.

International Journal Of Epidemiology

Besson, Caroline C; Moore, Amy A; Wu, Wenting W; Vajdic, Claire M CM; de Sanjose, Silvia S; Camp, Nicola J NJ; Smedby, Karin E KE; Shanafelt, Tait D TD; Morton, Lindsay M LM; Brewer, Jerry D JD; Zablotska, Lydia L; Engels, Eric A EA; Cerhan, James R JR; Slager, Susan L SL; Han, Jiali J; Berndt, Sonja I SI; ,

Publication Date: 2021-08-30

Variant appearance in text: rs12203592

PubMed Link: 33748835

Variant Present in the following documents:

• Main text

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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

Publication Date: 2021-03

Variant appearance in text: rs12203592

PubMed Link: 33692100

Variant Present in the following documents:

• Main text
• abd1239.pdf

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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

Publication Date: 2021-03

Variant appearance in text: rs12203592

PubMed Link: 33692100

Variant Present in the following documents:

• Main text
• abd1239.pdf

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On Naevi and Melanomas: Two Sides of the Same Coin?

Frontiers In Medicine

Lee, Katie J KJ; Janda, Monika M; Stark, Mitchell S MS; Sturm, Richard A RA; Soyer, H Peter HP

Publication Date: 2021

Variant appearance in text: rs12203592

PubMed Link: 33681261

Variant Present in the following documents:

• Main text

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Genetic loci associated with skin pigmentation in African Americans and their effects on vitamin D deficiency.

Plos Genetics

Batai, Ken K; Cui, Zuxi Z; Arora, Amit A; Shah-Williams, Ebony E; Hernandez, Wenndy W; Ruden, Maria M; Hollowell, Courtney M P CMP; Hooker, Stanley E SE; Bathina, Madhavi M; Murphy, Adam B AB; Bonilla, Carolina C; Kittles, Rick A RA

Publication Date: 2021-02

Variant appearance in text: rs12203592

PubMed Link: 33600456

Variant Present in the following documents:

• Main text

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Evaluation of OpenArray™ as a Genotyping Method for Forensic DNA Phenotyping and Human Identification.

Genes

Ragazzo, Michele M; Puleri, Giulio G; Errichiello, Valeria V; Manzo, Laura L; Luzzi, Laura L; Potenza, Saverio S; Strafella, Claudia C; Peconi, Cristina C; Nicastro, Fabio F; Caputo, Valerio V; Giardina, Emiliano E

Publication Date: 2021-02-03

Variant appearance in text: rs12203592

PubMed Link: 33546406

Variant Present in the following documents:

• Main text
• genes-12-00221.pdf

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Dissecting dynamics and differences of selective pressures in the evolution of human pigmentation.

Biology Open

Huang, Xin X; Wang, Sijia S; Jin, Li L; He, Yungang Y

Publication Date: 2021-02-09

Variant appearance in text: rs12203592

PubMed Link: 33495209

Variant Present in the following documents:

• Main text

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The evolution of skin pigmentation-associated variation in West Eurasia.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Ju, Dan D; Mathieson, Iain I

Publication Date: 2021-01-05

Variant appearance in text: rs12203592

PubMed Link: 33443182

Variant Present in the following documents:

• Main text
• pnas.202009227.pdf

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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

Publication Date: 2021-01-06

Variant appearance in text: rs12203592

PubMed Link: 33410475

Variant Present in the following documents:

• hmg-2020-ez-00182_law_supplementary_table_clean_ddaa222.xlsx, sheet 1

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