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Clinical Genetics and Bioinformatics

Clinical Genetics and Bioinformatics

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Яке твердження правильно розрізняє SNV та SNP?

SNP описує зміни в білково-кодуючих регіонах, тоді як SNV зустрічаються лише в некодуючих регіонах.

SNV стосується будь-якої однонуклеотидної зміни, тоді як SNP – це SNV, що зустрічається щонайменше у 1% популяції.

100%

SNP – це однонуклеотидна зміна, яка рідко зустрічається в популяції, тоді як SNV зустрічаються часто.

SNV завжди рідкісний, тоді як SNP завжди патогенний.

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Де можна знайти інформацію про однонуклеотидні поліморфізми (SNP)?

PubMed

GenBank

Google Scholar

dbSNP

100%

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What is the function of enhancers in gene regulation?

Have no effect on transcription

Decrease translation

Block transcription

Increase transcription

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Which HGVS formula represents two variants on different chromosomes ( trans )?

NM_001846.2:c.516=(;)(516=)

NM_004006.2:c.2376G>C(;)3103del

NM_004006.2:c.[2376G>C;3103del]

NM_001846.2:c.516T>A(;)(516T>A)

NM_004006.2:c.[2376G>C];[3103del]

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Which HGVS formula indicates confirmed homozygous gynotype to alternative allele?

NM_001846.2:c.516=(;)(516=)

NM_001846.2:c.[516T>A];[0]

NM_001846.2:c.516T>A(;)(516T>A)

NM_001846.2:c.[516T>A];[516T>A]

NM_001846.2:c.[516T>A];[516=]

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Which variant written according to HGVS shows an insertion? (select all correct answers)

NM_001009944.3(PKD1):c.1396G>A

NM_017534.6(MYH2):c.5609del

NC_000023.10:g.32862923_32862924insCCT

NM_174878.3(CLRN1):c.533A>G

NM_000548.5(TSC2):c.4857_4858insG

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Which genotype is a heterozygous genotype? (select all correct answers)

NM_019109.5(ALG1):c.[1076C>T];[1076C>T]

NM_004993.6(ATXN3):c.[482C>T];[482=].

NM_003114.5(SPAG1):c.2104delA(;)1_140del

NM_001009944.3(PKD1):c.[1660C>T];[1660=]

NM_000091.5(COL4A3):c.[1992del];[1992=]

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Which HGVS formula indicates a hemizygous genotype?

NM_001846.2:c.516=(;)(516=)

NM_001846.2:c.[516T>A];[0]

NM_001846.2:c.516T>A(;)(516T>A)

NM_001846.2:c.[516T>A];[516T>A]

NM_001846.2:c.[516T>A];[516=]

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Which HGVS formula indicates heterozygous genotype?

NM_001846.2:c.516=(;)(516=)

NM_001846.2:c.[516T>A];[0]

100%

NM_001846.2:c.516T>A(;)(516T>A)

NM_001846.2:c.[516T>A];[516T>A]

NM_001846.2:c.[516T>A];[516=]

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Image shows a CNV. Which ISCN formula is correct?

arr[GRCh37] 15q13.3(32018731_32515681)×3

arr[GRCh37] 4p16.3(48283_3980138)×3

arr[GRCh37] 10p15.3p12.31(135708_20608914)×3, 10q26.3 (135252347_135430043)×1

arr(21)×3

arr[GRCh37] 4p16.3(48283_3980138)×1

100%

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