Publications:

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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: CFTR: 1519A>T; Ile507Phe

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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FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands.

European Journal Of Human Genetics : Ejhg

Mortensen, Ólavur Ó; Thomsen, Elisabet E; Lydersen, Leivur N LN; Apol, Katrin D KD; Weihe, Pál P; Steig, Bjarni Á BÁ; Andorsdóttir, Guðrið G; Als, Thomas D TD; Gregersen, Noomi O NO

Publication Date: 2022-11-21

Variant appearance in text: rs1801178

PubMed Link: 36404349

Variant Present in the following documents:

• Main text
• 41431_2022_Article_1227.pdf

View BVdb publication page

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Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health.

Human Genetics

Zhou, Yitian Y; Lauschke, Volker M VM

Publication Date: 2022-06

Variant appearance in text: rs1801178

PubMed Link: 34652573

Variant Present in the following documents:

• Main text
• 439_2021_Article_2385.pdf
• 439_2021_2385_MOESM4_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: rs1801178

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: rs1801178

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
• 41525_2021_203_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: CFTR: I507F

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era.

Frontiers In Genetics

Abramovs, Nikita N; Brass, Andrew A; Tassabehji, May M

Publication Date: 2020

Variant appearance in text: rs1801178

PubMed Link: 32231685

Variant Present in the following documents:

• Main text
• fgene-11-00210.pdf
• Data_Sheet_1.xlsx, sheet 1

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: rs1801178

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

View BVdb publication page

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Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale.

Genome Biology

Kotlar, Alex V AV; Trevino, Cristina E CE; Zwick, Michael E ME; Cutler, David J DJ; Wingo, Thomas S TS

Publication Date: 2018-02-06

Variant appearance in text: rs1801178

PubMed Link: 29409527

Variant Present in the following documents:

• 13059_2018_1387_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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