Genotype-calling algorithms use normalized measures of DNA binding to allele specific probes to ascertain the genotype of an individual at a given SNP.
基因型調(diào)用算法使用DNA與等位基因特異性探針結(jié)合的標(biāo)準(zhǔn)化測(cè)量來確定給定SNP個(gè)體的基因型
low-frequency and rare variants (those with minor allele frequencies 0.5–5% and <0.5%, respectively; The 1000 Genomes Project Consortium, 2010)
Pathway- and network-based methodologies applied to GWAS aim to detect associations missed by standard single-marker approaches. The complex and non-random architecture of the genome makes it a challenge to derive an appropriate testing framework for such methodologies.
應(yīng)用于GWAS的基于路徑和網(wǎng)絡(luò)的方法旨在檢測(cè)標(biāo)準(zhǔn)單標(biāo)記方法遺漏的關(guān)聯(lián)疗隶。基因組結(jié)構(gòu)的復(fù)雜性和非隨機(jī)性使得為這種方法推導(dǎo)一個(gè)合適的測(cè)試框架成為一個(gè)挑戰(zhàn)。
With high-throughput DNA sequencing costs dropping $1000 for human genomes, data storage, retrieval and analysis are the major bottlenecks in biological studies.
PubMed 23751181
Our results indicate that the mapping difficulty of the reads
that involve significant mismatches is the main limitation to
our matching mechanism and other split read methods. This
also highlights what others have found in comparing different
CNV discovery methods that each method has its own strength
and weaknesses and they usually complement each other (Teo
et al., 2012). Our method should be applied in combination
with other methods that utilize read depths and mapping distances information. When there are enough junction reads, our
method can be applied to identify the exact breakpoints of
the CNVs
PUBMED 23967014 discussion
A recurrent CNV region is often defined as a set of consecutive probes that are altered in a group of samples
24642062
1.This obstacle can be partially bypassed by implementing the mixed linear model, which uses the genetic relationship
between individuals estimated from single nucleotide polymorphism (SNP) markers
GWAS mixed linear model in lieu of fitting hundreds of thousands of markers together
24817879
Copy number variations (CNVs) are a form of a structural
genomic variation referring to duplications and deletions
of DNA segments larger than 1 kilobase in size. CNVs are
abundant in the human genome, and it is estimated that
they can occupy as much as 4% to 6%
Analysis of Variable，ANOVA（方差分析）
