Instruct: Identify the main and secondary category of Arxiv papers based on the titles and abstracts
Query: Diminishing Return for Increased Mappability with Longer Sequencing
  Reads: Implications of the k-mer Distributions in the Human Genome   The amount of non-unique sequence (non-singletons) in a genome directly
affects the difficulty of read alignment to a reference assembly for high
throughput-sequencing data. Although a greater length increases the chance for
reads being uniquely mapped to the reference genome, a quantitative analysis of
the influence of read lengths on mappability has been lacking. To address this
question, we evaluate the k-mer distribution of the human reference genome. The
k-mer frequency is determined for k ranging from 20 to 1000 basepairs. We use
the proportion of non-singleton k-mers to evaluate the mappability of reads for
a corresponding read length. We observe that the proportion of non-singletons
decreases slowly with increasing k, and can be fitted by piecewise power-law
functions with different exponents at different k ranges. A faster decay at
smaller values for k indicates more limited gains for read lengths > 200
basepairs. The frequency distributions of k-mers exhibit long tails in a
power-law-like trend, and rank frequency plots exhibit a concave Zipf's curve.
The location of the most frequent 1000-mers comprises 172 kilobase-ranged
regions, including four large stretches on chromosomes 1 and X, containing
genes with biomedical implications. Even the read length 1000 would be
insufficient to reliably sequence these specific regions.

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The categories of this paper are: q-alg
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The categories of this paper are: eess
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The categories of this paper are: patt-sol
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The categories of this paper are: math-ph
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The categories of this paper are: nucl-ex
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The categories of this paper are: cmp-lg
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The categories of this paper are: cs
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The categories of this paper are: chem-ph
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The categories of this paper are: ao-sci
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The categories of this paper are: adap-org
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The categories of this paper are: physics
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The categories of this paper are: funct-an
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The categories of this paper are: bayes-an
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The categories of this paper are: acc-phys
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The categories of this paper are: cond-mat
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The categories of this paper are: atom-ph