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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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A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy.

• Authors : Yang X; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.; Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, People's Republic of China.

Subjects: Muscular Dystrophies*/Muscular Dystrophies*/Muscular Dystrophies*/genetics; Adult ; Humans Oculopharyngodistal Myopathy

• Source: BMC medical genomics [BMC Med Genomics] 2023 Oct 20; Vol. 16 (1), pp. 253. Date of Electronic Publication: 2023 Oct 20.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 the diagnosis of primary ciliary dyskinesia.

• Authors : Wheway G; Genomics England Research Consortium

Subjects: Whole Genome Sequencing*; Humans ; Male

• Source: BMC medical genomics [BMC Med Genomics] 2021 Sep 23; Vol. 14 (1), pp. 234. Date of Electronic Publication: 2021 Sep 23.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Validation of whole genome sequencing from dried blood spots.

• Authors : Agrawal P; Strand Life Sciences Pvt. Ltd., Ground Floor, UAS Alumni Association Building, Veterinary College Campus, Bellary Road, Bangalore, Karnataka, 560024, India.; Katragadda S

Subjects: Dried Blood Spot Testing*/Dried Blood Spot Testing*/Dried Blood Spot Testing*/methods ; Whole Genome Sequencing*/Whole Genome Sequencing*/Whole Genome Sequencing*/methods ; DNA Copy Number Variations*

• Source: BMC medical genomics [BMC Med Genomics] 2021 Apr 20; Vol. 14 (1), pp. 110. Date of Electronic Publication: 2021 Apr 20.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China.

• Authors : Yan L; The Central Laboratory of Birth Defects Prevention and Control, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, 315000, China.; Cao J

Subjects: Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/diagnosis ; Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/genetics ; Prenatal Diagnosis*

• Source: BMC medical genomics [BMC Med Genomics] 2023 Aug 17; Vol. 16 (1), pp. 190. Date of Electronic Publication: 2023 Aug 17.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Study protocol: Whole genome sequencing Implementation in standard Diagnostics for Every cancer patient (WIDE).

• Authors : Samsom KG; Department of Pathology, Netherlands Cancer Institute, Amsterdam, The Netherlands.; Bosch LJW

Subjects: Molecular Diagnostic Techniques*/Molecular Diagnostic Techniques*/Molecular Diagnostic Techniques*/economics ; Molecular Diagnostic Techniques*/Molecular Diagnostic Techniques*/Molecular Diagnostic Techniques*/methods ; Neoplasms*/Neoplasms*/Neoplasms*/chemistry

• Source: BMC medical genomics [BMC Med Genomics] 2020 Nov 10; Vol. 13 (1), pp. 169. Date of Electronic Publication: 2020 Nov 10.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Test development, optimization and validation of a WGS pipeline for genetic disorders.

• Authors : Yang Z; College of Life Sciences, University of Chinese Academy of Sciences, Beijing, 100049, China.; Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin, 300308, China.

Subjects: INDEL Mutation*; Whole Genome Sequencing/Whole Genome Sequencing/Whole Genome Sequencing/methods ; Base Sequence

• Source: BMC medical genomics [BMC Med Genomics] 2023 Apr 05; Vol. 16 (1), pp. 74. Date of Electronic Publication: 2023 Apr 05.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Quality of whole genome sequencing from blood versus saliva derived DNA in cardiac patients.

• Authors : Yao RA; Genetics and Genome Biology, Hospital for Sick Children, 555 University Ave, Toronto, Ontario, M5G 1X8, Canada.; Akinrinade O

Subjects: Blood* ; Databases, Nucleic Acid* ; Genome, Human*

• Source: BMC medical genomics [BMC Med Genomics] 2020 Jan 29; Vol. 13 (1), pp. 11. Date of Electronic Publication: 2020 Jan 29.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Study protocol of the GLOW study: maximising treatment options for recurrent glioblastoma patients by whole genome sequencing-based diagnostics—a prospective multicenter cohort study.

• Authors : van Opijnen, Mark P.^1,2 (AUTHOR); Broekman, Marike L. D.^1,2 (AUTHOR); de Vos, Filip Y. F.³ (AUTHOR)

• Source: BMC Medical Genomics. 11/4/2022, Vol. 15 Issue 1, p1-8. 8p.

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TMBur: a distributable tumor mutation burden approach for whole genome sequencing.

• Authors : Titmuss, Emma¹ (AUTHOR); Corbett, Richard D.¹ (AUTHOR); Davidson, Scott² (AUTHOR)

• Source: BMC Medical Genomics. 9/7/2022, Vol. 15 Issue 1, p1-7. 7p.

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