General Genomics

QUESTION

1. According to Kobayashi et al (Genome Medicine, 2017), the vast majority of pathogenic variants are present at an allele frequency of less than:

A. 10%
B. 1%
C. 0.1%
D. 0.01%
E. 0.001%

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ANSWER: D (pg 7 of 14)

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2. According to Lee et al (JMD 2015; 17: 339), presumed benign variants are typically regarded as those with minor allele frequencies (MAFs):

A. > 0.01 to 0.05%
B. > 0.1 to 0.5%
C. > 1 to 5%
D. > 10 to 50%

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ANSWER: C

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Philosophical

Question 1

The first report of the t8;21 translocation in acute myeloid leukemia was rejected by NEJM.

True/False

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Answer 1

Probably true - see Rowley 1990

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Question 2

Mojica's original report of CRISPER was rejected by Nature.

True/False

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Answer 2

True - see Lander 2016

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Question 3

According to The Philadelphia Chromosome, the first paper reporting the effect of CGP-57148B (imatinib) again BCR-ABL positive cells was rejected by Science and Nature.

True/False

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Answer 3

True - The Philadelphia Chromosome, pg 201

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Question 4

According to Drawing The Map Of Life, Kary Mullis's paper on PCR was rejected by both Nature and Science.

True/False

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Answer 4

True - Drawing The Map Of Life, pg 27

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Question 5

A study leading to the observation of an association between low maternal serum alpha-fetoprotein and fetal chromosomal abnormalities was sparked because of a single case.

True/False

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Answer 5

True - Merkatz et al. PMID: 6201071

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HBV

Question 1

The presence of anti-HBc in the absence of HBsAg may represent:

A. A false-positive result
B. Past exposure to HBV with resolved or resolving infection
C. Occult chronic HBV infection with detectable HBV DNA
D. All of the above

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Answer 1

D. All of the above

Reference: Huprikar et al. 2015

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Question 2

1 IU = ~5 copies of HBV DNA/ml

True or False?

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Answer 2

True (See FDA guidance pg 8)

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Question 3

Occult hepatitis B virus infection is defined as the presence of HBV DNA in the liver (with or without detectable HBV DNA in the serum) in HBsAg-negative individuals.

True or False?

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Answer 3

True (Samal et al. 2012 pg 146)

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Question 4

Transfusion-transmitted HBV has been reported from a anti-HBs positive occult hepatitis B donor

True or False?

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Answer 4

True (Levicnik-Stezinar et al. 2008)

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