Genome Sequencing and Assembly Techniques

Flashcards for reviewing key concepts related to genome sequencing and assembly techniques, including methods of sequencing, types of mutations, and approaches to data analysis.

Sequencing involves __, generating reads, and assembling them into genomes.

fragmenting DNA

Overlap, read length, and __ strategies are key to resolving complex regions.

paired-end

Repetitive elements challenge assembly but can be managed with __ and scaffolding.

long reads

Genome assembly is an ongoing process, refined with __ advances and biological insights.

technological

Sequencing reads can be aligned to identify __ and assemble genomes.

variants

Homozygous alleles show __ reads at a site.

identical

Heterozygous alleles display differences, e.g., __ vs. A.

G

Variants can be germline or __, with heterozygosity influencing read distribution.

somatic

Early mutations are called __ mutations, which cause cancer.

driver

If a mutation appears only in tumor tissue, it's considered __; if in both, it's __.

somatic; germline

Paired-end reads provide __ info by sequencing both ends of a fragment.

proximity

Genomes are cut into small fragments (~__ bases) for sequencing.

250

Overlapping reads are assembled into __.

contigs

Average coverage across the genome helps assess __ quality.

data

Re-sequencing aligns reads to a __ genome to identify variants.

reference

RNA sequencing captures expressed __, often using polyA selection.

transcripts

ChIP-seq examines chromatin modifications and __ interactions across the genome.

protein-DNA

Methylation sequencing assesses DNA __ patterns, influencing gene expression.

methylation