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: TG: 715G>A

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

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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: TG: 715G>A

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9

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Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.

Nature Communications

Akbari, Parsa P; Sosina, Olukayode A OA; Bovijn, Jonas J; Landheer, Karl K; Nielsen, Jonas B JB; Kim, Minhee M; Aykul, Senem S; De, Tanima T; Haas, Mary E ME; Hindy, George G; Lin, Nan N; Dinsmore, Ian R IR; Luo, Jonathan Z JZ; Hectors, Stefanie S; Geraghty, Benjamin B; Germino, Mary M; Panagis, Lampros L; Parasoglou, Prodromos P; Walls, Johnathon R JR; Halasz, Gabor G; Atwal, Gurinder S GS; , ; , ; Jones, Marcus M; LeBlanc, Michelle G MG; Still, Christopher D CD; Carey, David J DJ; Giontella, Alice A; Orho-Melander, Marju M; Berumen, Jaime J; Kuri-Morales, Pablo P; Alegre-Díaz, Jesus J; Torres, Jason M JM; Emberson, Jonathan R JR; Collins, Rory R; Rader, Daniel J DJ; Zambrowicz, Brian B; Murphy, Andrew J AJ; Balasubramanian, Suganthi S; Overton, John D JD; Reid, Jeffrey G JG; Shuldiner, Alan R AR; Cantor, Michael M; Abecasis, Goncalo R GR; Ferreira, Manuel A R MAR; Sleeman, Mark W MW; Gusarova, Viktoria V; Altarejos, Judith J; Harris, Charles C; Economides, Aris N AN; Idone, Vincent V; Karalis, Katia K; Della Gatta, Giusy G; Mirshahi, Tooraj T; Yancopoulos, George D GD; Melander, Olle O; Marchini, Jonathan J; Tapia-Conyer, Roberto R; Locke, Adam E AE; Baras, Aris A; Verweij, Niek N; Lotta, Luca A LA

Publication Date: 2022-08-23

Variant appearance in text: TG: 715G>A

PubMed Link: 35999217

Variant Present in the following documents:

• 41467_2022_32398_MOESM4_ESM.xlsx, sheet 4

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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: TG: 715G>A

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

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Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures.

Nature Communications

Georgeson, Peter P; Harrison, Tabitha A TA; Pope, Bernard J BJ; Zaidi, Syed H SH; Qu, Conghui C; Steinfelder, Robert S RS; Lin, Yi Y; Joo, Jihoon E JE; Mahmood, Khalid K; Clendenning, Mark M; Walker, Romy R; Amitay, Efrat L EL; Berndt, Sonja I SI; Brenner, Hermann H; Campbell, Peter T PT; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Doheny, Kimberly F KF; Drew, David A DA; Figueiredo, Jane C JC; French, Amy J AJ; Gallinger, Steven S; Giannakis, Marios M; Giles, Graham G GG; Gsur, Andrea A; Gunter, Marc J MJ; Hoffmeister, Michael M; Hsu, Li L; Huang, Wen-Yi WY; Limburg, Paul P; Manson, JoAnn E JE; Moreno, Victor V; Nassir, Rami R; Nowak, Jonathan A JA; Obón-Santacana, Mireia M; Ogino, Shuji S; Phipps, Amanda I AI; Potter, John D JD; Schoen, Robert E RE; Sun, Wei W; Toland, Amanda E AE; Trinh, Quang M QM; Ugai, Tomotaka T; Macrae, Finlay A FA; Rosty, Christophe C; Hudson, Thomas J TJ; Jenkins, Mark A MA; Thibodeau, Stephen N SN; Winship, Ingrid M IM; Peters, Ulrike U; Buchanan, Daniel D DD

Publication Date: 2022-06-06

Variant appearance in text: TG: 715G>A

PubMed Link: 35668106

Variant Present in the following documents:

• 41467_2022_30916_MOESM3_ESM.xlsx, sheet 7

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Cellular and genetic drivers of RNA editing variation in the human brain.

Nature Communications

Cuddleston, Winston H WH; Li, Junhao J; Fan, Xuanjia X; Kozenkov, Alexey A; Lalli, Matthew M; Khalique, Shahrukh S; Dracheva, Stella S; Mukamel, Eran A EA; Breen, Michael S MS

Publication Date: 2022-05-30

Variant appearance in text: TG: 715G>A

PubMed Link: 35637184

Variant Present in the following documents:

• 41467_2022_30531_MOESM5_ESM.xlsx, sheet 4

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Mutations in degP and spoT Genes Mediate Response to Fermentation Stress in Thermally Adapted Strains of Acetic Acid Bacterium Komagataeibacter medellinensis NBRC 3288.

Frontiers In Microbiology

Kataoka, Naoya N; Matsutani, Minenosuke M; Matsumoto, Nami N; Oda, Misuzu M; Mizumachi, Yuki Y; Ito, Kohei K; Tanaka, Shuhei S; Kanesaki, Yu Y; Yakushi, Toshiharu T; Matsushita, Kazunobu K

Publication Date: 2022

Variant appearance in text: TG: D239N

PubMed Link: 35633714

Variant Present in the following documents:

• fmicb-13-802010.pdf

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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: TG: 715G>A

PubMed Link: 34789164

Variant Present in the following documents:

• 12863_2021_1010_MOESM9_ESM.xlsx, sheet 1

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Genomic characterization between strains selected for death-feigning duration for avoiding attack of a beetle.

Scientific Reports

Tanaka, Keisuke K; Sasaki, Ken K; Matsumura, Kentarou K; Yajima, Shunsuke S; Miyatake, Takahisa T

Publication Date: 2021-11-08

Variant appearance in text: TG: 715G>A

PubMed Link: 34750398

Variant Present in the following documents:

• 41598_2021_987_MOESM1_ESM.xlsx, sheet 1

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Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications

Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G

Publication Date: 2021-08-31

Variant appearance in text: TG: 715G>A

PubMed Link: 34465776

Variant Present in the following documents:

• 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: TG: 715G>A

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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Design of a companion bioinformatic tool to detect the emergence and geographical distribution of SARS-CoV-2 Spike protein genetic variants.

Journal Of Translational Medicine

Massacci, Alice A; Sperandio, Eleonora E; D'Ambrosio, Lorenzo L; Maffei, Mariano M; Palombo, Fabio F; Aurisicchio, Luigi L; Ciliberto, Gennaro G; Pallocca, Matteo M

Publication Date: 2020-12-30

Variant appearance in text: TG: 715G>A

PubMed Link: 33380328

Variant Present in the following documents:

• 12967_2020_2675_MOESM1_ESM.xlsx, sheet 1

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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: TG: 715G>A

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

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Hypertrophic cardiomyopathy and the myosin mesa: viewing an old disease in a new light.

Biophysical Reviews

Trivedi, Darshan V DV; Adhikari, Arjun S AS; Sarkar, Saswata S SS; Ruppel, Kathleen M KM; Spudich, James A JA

Publication Date: 2018-02

Variant appearance in text: TG: D239N

PubMed Link: 28717924

Variant Present in the following documents:

• 12551_2017_Article_274.pdf

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: TG: 715G>A

PubMed Link: 28231761

Variant Present in the following documents:

• 12864_2017_3524_MOESM3_ESM.xlsx, sheet 2

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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: TG: 715G>A; D239N

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: TG: D239N

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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