Publications:

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HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: GC: 404C>T; T135I

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology

Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M

Publication Date: 2023-03-03

Variant appearance in text: GC: 404C>T

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

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Proteogenomic characterization of MiT family translocation renal cell carcinoma.

Nature Communications

Qu, Yuanyuan Y; Wu, Xiaohui X; Anwaier, Aihetaimujiang A; Feng, Jinwen J; Xu, Wenhao W; Pei, Xiaoru X; Zhu, Yu Y; Liu, Yang Y; Bai, Lin L; Yang, Guojian G; Tian, Xi X; Su, Jiaqi J; Shi, Guo-Hai GH; Cao, Da-Long DL; Xu, Fujiang F; Wang, Yue Y; Gan, Hua-Lei HL; Ni, Shujuan S; Sun, Meng-Hong MH; Zhao, Jian-Yuan JY; Zhang, Hailiang H; Ye, Dingwei D; Ding, Chen C

Publication Date: 2022-12-05

Variant appearance in text: GC: Thr135Ile

PubMed Link: 36470859

Variant Present in the following documents:

• 41467_2022_34460_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Safety of Anti-Angiogenic Drugs in Pediatric Patients with Solid Tumors: A Systematic Review and Meta-Analysis.

Cancers

Spini, Andrea A; Ciccone, Valerio V; Rosellini, Pietro P; Ziche, Marina M; Lucenteforte, Ersilia E; Salvo, Francesco F; Donnini, Sandra S

Publication Date: 2022-10-28

Variant appearance in text: GC: T135I

PubMed Link: 36358734

Variant Present in the following documents:

• cancers-14-05315.pdf

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: GC: 404C>T

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Monitoring of the SARS-CoV-2 Omicron BA.1/BA.2 lineage transition in the Swedish population reveals increased viral RNA levels in BA.2 cases.

Med (New York, N.Y.)

Lentini, Antonio A; Pereira, Antonio A; Winqvist, Ola O; Reinius, Björn B

Publication Date: 2022-09-09

Variant appearance in text: GC: T135I

PubMed Link: 35981541

Variant Present in the following documents:

• mmc7.xlsx, sheet 1

View BVdb publication page

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: rs142840177

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 1
• mmc5.xlsx, sheet 3

View BVdb publication page

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A SARS-CoV-2 Delta variant containing mutation in the probe binding region used for RT-qPCR test in Japan exhibited atypical PCR amplification and might induce false negative result.

Journal Of Infection And Chemotherapy : Official Journal Of The Japan Society Of Chemotherapy

Rajib, Samiul Alam SA; Ogi, Yasuhiro Y; Hossain, Md Belal MB; Ikeda, Terumasa T; Tanaka, Eiichi E; Kawaguchi, Tatsuya T; Satou, Yorifumi Y

Publication Date: 2022-05

Variant appearance in text: GC: T135I

PubMed Link: 35144878

Variant Present in the following documents:

• mmc2.xls, sheet 1

View BVdb publication page

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HDAC2 Facilitates Pancreatic Cancer Metastasis.

Cancer Research

Krauß, Lukas L; Urban, Bettina C BC; Hastreiter, Sieglinde S; Schneider, Carolin C; Wenzel, Patrick P; Hassan, Zonera Z; Wirth, Matthias M; Lankes, Katharina K; Terrasi, Andrea A; Klement, Christine C; Cernilogar, Filippo M FM; Öllinger, Rupert R; de Andrade Krätzig, Niklas N; Engleitner, Thomas T; Schmid, Roland M RM; Steiger, Katja K; Rad, Roland R; Krämer, Oliver H OH; Reichert, Maximilian M; Schotta, Gunnar G; Saur, Dieter D; Schneider, Günter G

Publication Date: 2022-02-15

Variant appearance in text: GC: 404C>T; Thr135Ile

PubMed Link: 34903606

Variant Present in the following documents:

• can-20-3209_supplementary_table_3_suppst3.xlsx, sheet 2

View BVdb publication page

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Cross-sectional genomic perspective of epidemic waves of SARS-CoV-2: A pan India study.

Virus Research

Kumar, Sanjeet S; Bansal, Kanika K

Publication Date: 2022-01-15

Variant appearance in text: GC: T135I

PubMed Link: 34822953

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Cross-sectional genomic perspective of epidemic waves of SARS-CoV-2: A pan India study.

Virus Research

Kumar, Sanjeet S; Bansal, Kanika K

Publication Date: 2021-11-22

Variant appearance in text: GC: T135I

PubMed Link: 34822953

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.

Bmc Genomic Data

Zhao, Ting T; Fan, Shanghua S; Sun, Liu L

Publication Date: 2021-11-17

Variant appearance in text: GC: 404C>T; Thr135Ile

PubMed Link: 34789164

Variant Present in the following documents:

• 12863_2021_1010_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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Wave-wise comparative genomic study for revealing the complete scenario and dynamic nature of COVID-19 pandemic in Bangladesh.

Plos One

Ahammad, Ishtiaque I; Hossain, Mohammad Uzzal MU; Rahman, Anisur A; Chowdhury, Zeshan Mahmud ZM; Bhattacharjee, Arittra A; Das, Keshob Chandra KC; Keya, Chaman Ara CA; Salimullah, Md M

Publication Date: 2021

Variant appearance in text: GC: T135I

PubMed Link: 34587212

Variant Present in the following documents:

• pone.0258019.s004.xlsx, sheet 1

View BVdb publication page

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: GC: 404C>T

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 5

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: GC: 404C>T

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells

Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC

Publication Date: 2020-10-31

Variant appearance in text: GC: 404C>T; Thr135Ile

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

View BVdb publication page

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A nutrient-limited screen unmasks rifabutin hyperactivity for extensively drug-resistant Acinetobacter baumannii.

Nature Microbiology

Luna, Brian B; Trebosc, Vincent V; Lee, Bosul B; Bakowski, Malina M; Ulhaq, Amber A; Yan, Jun J; Lu, Peggy P; Cheng, Jiaqi J; Nielsen, Travis T; Lim, Juhyeon J; Ketphan, Warisa W; Eoh, Hyungjin H; McNamara, Case C; Skandalis, Nicholas N; She, Rosemary R; Kemmer, Christian C; Lociuro, Sergio S; Dale, Glenn E GE; Spellberg, Brad B

Publication Date: 2020-09

Variant appearance in text: GC: 404C>T

PubMed Link: 32514072

Variant Present in the following documents:

• NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 13

View BVdb publication page

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In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer

Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H

Publication Date: 2020-05

Variant appearance in text: rs142840177

PubMed Link: 32457125

Variant Present in the following documents:

• jitc-2019-000204supp003.xlsx, sheet 3

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: GC: 404C>T

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: GC: 404C>T

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 7
• Supplementary_Data2.xlsx, sheet 5
• Supplementary_Data2.xlsx, sheet 6
• Supplementary_Data2.xlsx, sheet 9
• Supplementary_Data2.xlsx, sheet 10

View BVdb publication page

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DaT Scan "Abnormality" in Hyperglycemic-Hemichorea.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)

Doher, Nicholas N; Gupta, Harsh V HV

Publication Date: 2019

Variant appearance in text: GC: 404C>T

PubMed Link: 31824748

Variant Present in the following documents:

• tre-09-739-s003.xlsx, sheet 11

View BVdb publication page

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Enhancer mapping uncovers phenotypic heterogeneity and evolution in patients with luminal breast cancer.

Nature Medicine

Patten, Darren K DK; Corleone, Giacomo G; Győrffy, Balázs B; Perone, Ylenia Y; Slaven, Neil N; Barozzi, Iros I; Erdős, Edina E; Saiakhova, Alina A; Goddard, Kate K; Vingiani, Andrea A; Shousha, Sami S; Pongor, Lőrinc Sándor LS; Hadjiminas, Dimitri J DJ; Schiavon, Gaia G; Barry, Peter P; Palmieri, Carlo C; Coombes, Raul C RC; Scacheri, Peter P; Pruneri, Giancarlo G; Magnani, Luca L

Publication Date: 2018-09

Variant appearance in text: GC: 404C>T

PubMed Link: 30038216

Variant Present in the following documents:

• NIHMS77762-supplement-Supplementary_Data_1.xlsx, sheet 1

View BVdb publication page

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Genomic characterisation of Eμ-Myc mouse lymphomas identifies Bcor as a Myc co-operative tumour-suppressor gene.

Nature Communications

Lefebure, Marcus M; Tothill, Richard W RW; Kruse, Elizabeth E; Hawkins, Edwin D ED; Shortt, Jake J; Matthews, Geoffrey M GM; Gregory, Gareth P GP; Martin, Benjamin P BP; Kelly, Madison J MJ; Todorovski, Izabela I; Doyle, Maria A MA; Lupat, Richard R; Li, Jason J; Schroeder, Jan J; Wall, Meaghan M; Craig, Stuart S; Poortinga, Gretchen G; Cameron, Don D; Bywater, Megan M; Kats, Lev L; Gearhart, Micah D MD; Bardwell, Vivian J VJ; Dickins, Ross A RA; Hannan, Ross D RD; Papenfuss, Anthony T AT; Johnstone, Ricky W RW

Publication Date: 2017-03-06

Variant appearance in text: GC: 404C>T

PubMed Link: 28262675

Variant Present in the following documents:

• ncomms14581-s3.xlsx, sheet 1

View BVdb publication page

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Landscape of genomic diversity and host adaptation in Fusarium graminearum.

Bmc Genomics

Laurent, Benoit B; Moinard, Magalie M; Spataro, Cathy C; Ponts, Nadia N; Barreau, Christian C; Foulongne-Oriol, Marie M

Publication Date: 2017-02-23

Variant appearance in text: GC: 404C>T

PubMed Link: 28231761

Variant Present in the following documents:

• 12864_2017_3524_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: GC: 404C>T

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: GC: T135I

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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Whole-genome resequencing analyses of five pig breeds, including Korean wild and native, and three European origin breeds.

Dna Research : An International Journal For Rapid Publication Of Reports On Genes And Genomes

Choi, Jung-Woo JW; Chung, Won-Hyong WH; Lee, Kyung-Tai KT; Cho, Eun-Seok ES; Lee, Si-Woo SW; Choi, Bong-Hwan BH; Lee, Sang-Heon SH; Lim, Wonjun W; Lim, Dajeong D; Lee, Yun-Gyeong YG; Hong, Joon-Ki JK; Kim, Doo-Wan DW; Jeon, Hyeon-Jeong HJ; Kim, Jiwoong J; Kim, Namshin N; Kim, Tae-Hun TH

Publication Date: 2015-08

Variant appearance in text: GC: T135I

PubMed Link: 26117497

Variant Present in the following documents:

• supp_dsv011_dsv011supp_table2.xlsx, sheet 2

View BVdb publication page

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