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: 270A>G; A90A

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: 270A>G

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9
• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

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

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: GC: 270A>G

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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: 270A>G

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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The Relationship Between Gut Microbiome Features and Chemotherapy Response in Gastrointestinal Cancer.

Frontiers In Oncology

Li, Ningning N; Bai, Chunmei C; Zhao, Lin L; Sun, Zhao Z; Ge, Yuping Y; Li, Xiaoyuan X

Publication Date: 2021

Variant appearance in text: GC: A90A

PubMed Link: 35004303

Variant Present in the following documents:

• Main text

View BVdb publication page

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Independent DSG4 frameshift variants in cats with hair shaft dystrophy.

Molecular Genetics And Genomics : Mgg

Kiener, Sarah S; Rostaher, Ana A; Rüfenacht, Silvia S; Jagannathan, Vidhya V; Sundberg, John P JP; Welle, Monika M; Leeb, Tosso T

Publication Date: 2022-01

Variant appearance in text: GC: Ala90Ala

PubMed Link: 34878611

Variant Present in the following documents:

• 438_2021_1842_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Independent DSG4 frameshift variants in cats with hair shaft dystrophy.

Molecular Genetics And Genomics : Mgg

Kiener, Sarah S; Rostaher, Ana A; Rüfenacht, Silvia S; Jagannathan, Vidhya V; Sundberg, John P JP; Welle, Monika M; Leeb, Tosso T

Publication Date: 2021-12-08

Variant appearance in text: GC: Ala90Ala

PubMed Link: 34878611

Variant Present in the following documents:

• 438_2021_1842_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: GC: 270A>G

PubMed Link: 34750398

Variant Present in the following documents:

• 41598_2021_987_MOESM1_ESM.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: 270A>G

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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New evaluation methods of read mapping by 17 aligners on simulated and empirical NGS data: an updated comparison of DNA- and RNA-Seq data from Illumina and Ion Torrent technologies.

Neural Computing & Applications

Donato, Luigi L; Scimone, Concetta C; Rinaldi, Carmela C; D'Angelo, Rosalia R; Sidoti, Antonina A

Publication Date: 2021-06-16

Variant appearance in text: GC: A90A

PubMed Link: 34155424

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomics of an endemic cystic fibrosis Burkholderia multivorans strain reveals low within-patient evolution but high between-patient diversity.

Plos Pathogens

Lood, Cédric C; Peeters, Charlotte C; Lamy-Besnier, Quentin Q; Wagemans, Jeroen J; De Vos, Daniel D; Proesmans, Marijke M; Pirnay, Jean-Paul JP; Echahidi, Fedoua F; Piérard, Denis D; Thimmesch, Matthieu M; Boeras, Anca A; Lagrou, Katrien K; De Canck, Evelien E; De Wachter, Elke E; van Noort, Vera V; Lavigne, Rob R; Vandamme, Peter P

Publication Date: 2021-03

Variant appearance in text: GC: 270A>G

PubMed Link: 33720991

Variant Present in the following documents:

• ppat.1009418.s005.xlsx, sheet 9

View BVdb publication page

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GS-9822, a preclinical LEDGIN candidate, displays a block-and-lock phenotype in cell culture.

Antimicrobial Agents And Chemotherapy

Bruggemans, Anne A; Vansant, Gerlinde G; Balakrishnan, Mini M; Mitchell, Michael L ML; Cai, Ruby R; Christ, Frauke F; Debyser, Zeger Z

Publication Date: 2021-02-22

Variant appearance in text: GC: A90A

PubMed Link: 33619061

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: GC: 270A>G; Ala90Ala

PubMed Link: 33380328

Variant Present in the following documents:

• 12967_2020_2675_MOESM1_ESM.xlsx, sheet 2
• 12967_2020_2675_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Systematic Analyses of the Differentially Expressed Alternative Splicing Events in Gastric Cancer and Its Clinical Significance.

Frontiers In Genetics

Lin, Changwei C; Yu, Bowen B; Zhang, Mao M; Chen, Yifei Y; Li, Liang L; Zhao, Deze D

Publication Date: 2020

Variant appearance in text: GC: A90A

PubMed Link: 33281863

Variant Present in the following documents:

• Main text

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: 270A>G

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

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The ERBB-STAT3 Axis Drives Tasmanian Devil Facial Tumor Disease.

Cancer Cell

Kosack, Lindsay L; Wingelhofer, Bettina B; Popa, Alexandra A; Orlova, Anna A; Agerer, Benedikt B; Vilagos, Bojan B; Majek, Peter P; Parapatics, Katja K; Lercher, Alexander A; Ringler, Anna A; Klughammer, Johanna J; Smyth, Mark M; Khamina, Kseniya K; Baazim, Hatoon H; de Araujo, Elvin D ED; Rosa, David A DA; Park, Jisung J; Tin, Gary G; Ahmar, Siawash S; Gunning, Patrick T PT; Bock, Christoph C; Siddle, Hannah V HV; Woods, Gregory M GM; Kubicek, Stefan S; Murchison, Elizabeth P EP; Bennett, Keiryn L KL; Moriggl, Richard R; Bergthaler, Andreas A

Publication Date: 2019-01-14

Variant appearance in text: GC: Ala90Ala

PubMed Link: 30645971

Variant Present in the following documents:

• mmc5.xlsx, sheet 5

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Comparative Genomics of Two Sequential Candida glabrata Clinical Isolates.

G3 (Bethesda, Md.)

Vale-Silva, Luis L; Beaudoing, Emmanuel E; Tran, Van Du T VDT; Sanglard, Dominique D

Publication Date: 2017-08-07

Variant appearance in text: GC: 270A>G

PubMed Link: 28663342

Variant Present in the following documents:

• 2413FileS2.xlsx, sheet 1

View BVdb publication page

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A common African polymorphism abolishes tyrosine sulfation of human anionic trypsinogen (PRSS2).

The Biochemical Journal

Rónai, Zsolt Z; Witt, Heiko H; Rickards, Olga O; Destro-Bisol, Giovanni G; Bradbury, Andrew R M AR; Sahin-Tóth, Miklós M

Publication Date: 2009-02-15

Variant appearance in text: GC: 270A>G

PubMed Link: 18986305

Variant Present in the following documents:

• Main text

View BVdb publication page

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