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Subject : dna copy number variations Filter by : Author

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Academic Journal

SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.

Authors : Ding Q; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.

Subjects: DNA Copy Number Variations* ; Autism Spectrum Disorder*; Humans

Source: Human genetics [Hum Genet] 2023 Feb; Vol. 142 (2), pp. 201-216. Date of Electronic Publication: 2022 Nov 14.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.

Authors : Trost B; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Walker S

Subjects: Whole Genome Sequencing* ; Workflow*; DNA Copy Number Variations/DNA Copy Number Variations/DNA Copy Number Variations/*genetics

Source: American journal of human genetics [Am J Hum Genet] 2018 Jan 04; Vol. 102 (1), pp. 142-155.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605

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Academic Journal

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

Authors : Reuter, Miriam S.; Walker, Susan; Thiruvahindrapuram, Bhooma

Subjects: NUCLEOTIDE sequencing; CANCER risk factors; DNA copy number variationsCANADA

Source: Canadian Medical Association Journal (CMAJ); 2/5/2018, Vol. 190 Issue 5, pE126-E136, 11p, 2 Diagrams, 3 Charts, 1 Graph

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Academic Journal

Genomic architecture of autism from comprehensive whole-genome sequence annotation.

Authors : Trost, Brett (AUTHOR); Thiruvahindrapuram, Bhooma (AUTHOR); Chan, Ada J.S. (AUTHOR)

Subjects: NUCLEOTIDE sequencing; AUTISM spectrum disorders; AUTISM

Source: Cell. Nov2022, Vol. 185 Issue 23, p4409-4409. 1p.

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