نتائج البحث

A genome-wide association study of methamphetamine use among people with HIV.

• Authors : Venkataraman, A.¹ (AUTHOR) ; Jia, T.¹ (AUTHOR); Ruderman, S. A.¹ (AUTHOR)

• Source: BMC Medical Genomics. 3/11/2025, Vol. 18 Issue 1, p1-8. 8p.

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Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencing.

• Authors : Bengl, Daniel¹ (AUTHOR) ; Koparir, Asuman¹ (AUTHOR) ; Prastyo, Wahyu Eka¹ (AUTHOR)

• Source: BMC Medical Genomics. 3/31/2025, Vol. 18 Issue 1, p1-14. 14p.

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A dedicated caller for DUX4 rearrangements from whole-genome sequencing data.

• Authors : Grobecker, Pascal¹ (AUTHOR); Berri, Stefano¹ (AUTHOR); Peden, John F.² (AUTHOR)

• Source: BMC Medical Genomics. 1/30/2025, Vol. 18 Issue 1, p1-11. 11p.

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Genome-wide association study and trans-ethnic meta-analysis identify novel susceptibility loci for type 2 diabetes mellitus.

• Authors : Elashi, Asma A¹ (AUTHOR); Toor, Salman M¹ (AUTHOR); Umlai, Umm-Kulthum Ismail¹ (AUTHOR)

• Source: BMC Medical Genomics. 5/16/2024, Vol. 17 Issue 1, p1-12. 12p.

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Genome-wide association analysis of cystatin c and creatinine kidney function in Chinese women.

• Authors : Cai Y; College of Public Health, Southwest Medical University, Luzhou, Sichuan, China.; Department of Epidemiology, College of Preventive Medicine, Third Military Medical University (Army Medical University), Chongqing, China.

Subjects: Creatinine*/Creatinine*/Creatinine*/blood ; Cystatin C*/Cystatin C*/Cystatin C*/genetics ; Genome-Wide Association Study*

• Source: BMC medical genomics [BMC Med Genomics] 2024 Nov 18; Vol. 17 (1), pp. 272. Date of Electronic Publication: 2024 Nov 18.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Comparing variants related to chronic diseases from genome-wide association study (GWAS) and the cancer genome atlas (TCGA).

• Authors : Jeon, Soohyun¹ (AUTHOR); Park, Chaewon^2,3 (AUTHOR); Kim, Jineui⁴ (AUTHOR)

• Source: BMC Medical Genomics. 12/19/2023, Vol. 16 Issue 1, p1-15. 15p.

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Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.

• Authors : Yoon JG; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea.; Department of Laboratory Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.

Subjects: Muscle Hypotonia*/Muscle Hypotonia*/Muscle Hypotonia*/genetics ; Muscular Atrophy*/Muscular Atrophy*/Muscular Atrophy*/genetics ; Sequence Deletion* Allan-Herndon-Dudley syndrome

• Source: BMC medical genomics [BMC Med Genomics] 2025 Mar 03; Vol. 18 (1), pp. 41. Date of Electronic Publication: 2025 Mar 03.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Whole genome sequencing in clinical practice.

• Authors : Bagger, Frederik Otzen¹ (AUTHOR); Borgwardt, Line¹ (AUTHOR); Jespersen, Andreas Sand¹ (AUTHOR)

• Source: BMC Medical Genomics. 1/29/2024, Vol. 17 Issue 1, p1-16. 16p.

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Genome-wide neonatal epigenetic changes associated with maternal exposure to the COVID-19 pandemic.

• Authors : Kocher, Kristen; Bhattacharya, Surajit; Niforatos-Andescavage, Nickie

Subjects: COVID-19 pandemic; DNA methylation; Epigenetics

• Source: BMC Medical Genomics. 16(1)

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Exome-wide association study reveals 7 functional variants associated with ex-vivo drug response in acute myeloid leukemia patients.

• Authors : Giri, Anil K.^1,2,3 (AUTHOR) ; Lin, Jake¹ (AUTHOR); Kyriakidis, Konstantinos¹ (AUTHOR)

• Source: BMC Medical Genomics. 4/4/2025, Vol. 18 Issue 1, p1-10. 10p.

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