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GV-Rep: A Large-Scale Dataset for Genetic Variant Representation Learning

• Authors : Li, Zehui; Subasri, Vallijah; Stan, Guy-Bart

Subjects: Computer Science - Machine Learning; Quantitative Biology - Genomics

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Vitamin D receptor genetic variant associated with asthma in Swedish school-children

• Authors : Filiou, A; Hoyer, A; Holmdahl, I

Subjects: Medicin och hälsovetenskap

• Source: Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology. 53(10):1045-1049

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KCNG4 Genetic Variant Linked to Migraine Prevents Expression of KCNB1.

• Authors : Lacroix, Gabriel¹ (AUTHOR); Bhat, Shreyas^1,2,3 (AUTHOR); Shafia, Zerghona^3,4 (AUTHOR)

Subjects: *VOLTAGE-gated ion channels; *GENETIC variation; *CELLULAR signal transduction

• Source: International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 16, p8960. 11p.

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CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

• Authors : Jain, S.; Niroula, A.; Vihinen, M.

Subjects: nucleotide; area under the curve; art

• Source: Genome Biology StemTherapy: National Initiative on Stem Cells for Regenerative Therapy. 25(1)

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Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters.

• Authors : Amosova, Maria¹ ; Poluboyarinova, Irina¹; Fadeev, Valentin¹

• Source: JCEM Case Reports. Aug2024, Vol. 2 Issue 8, p1-5. 5p.

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Preparing to Integrate Generative Pretrained Transformer Series 4 models into Genetic Variant Assessment Workflows: Assessing Performance, Drift, and Nondeterminism Characteristics Relative to Classifying Functional Evidence in Literature

• Authors : Aronson, Samuel J.; Machini, Kalotina; Shin, Jiyeon

Subjects: Quantitative Biology - Genomics; Computer Science - Artificial Intelligence

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Discovering a novel genetic variant in 11 family members who had isolated pheochromocytoma linked to von Hippel-Lindau (VHL) syndrome, aligning with the type 2c phenotype

• Authors : Hussein Alhawari; Zaina Obeidat; Lina Wahbeh

Subjects: Hypertension; Pheochromocytoma; Von Hippel Lindau syndrome

• Source: Blood Pressure, Vol 33, Iss 1 (2024)

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EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay

• Authors : Sleptsova M; Georgiev C; Atemin S

Subjects: epha4; whole exome sequencing; epilepsy

• Source: Balkan Journal of Medical Genetics, Vol 26, Iss 2, Pp 65-68 (2024)

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Influence of αs1-casein genetic variant in buffalo milk and rennet coagulation properties.

• Authors : Stepić, Stefan¹ ; Miočinović, Jelena²; Radovanović, Mira²

Subjects: *CASEINS; *RENNET; *GENETIC variationSERBIA

• Source: Dairy / Mljekarstvo. Jul-Sep2024, Vol. 74 Issue 3, p219-229. 11p.

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Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors

• Authors : Yu-Jen Lin; Arul S. Menon; Zhiqiang Hu

Subjects: VIPdb; Variant Impact Predictor (VIP); Variant Effect Predictor (VEP)

• Source: Human Genomics, Vol 18, Iss 1, Pp 1-15 (2024)

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