An integrated map of genetic variation from 1,092 human genomes
The 1000 Genomes Project Consortium
AffiliationsContributionsCorresponding author
Nature 491, 56–65 (01 November 2012) doi:10.1038/nature11632
Received 04 July 2012 Accepted 01 October 2012 Published online 31 October 2012
Abstract
By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38|[thinsp]|million single nucleotide polymorphisms, 1.4|[thinsp]|million short insertions and deletions, and more than 14,000 larger deletions. We show that individuals from different populations carry different profiles of rare and common variants, and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of purifying selection. We show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations.
Subject terms: Genetics Genomics
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Excerpt/Excerto:
"Every time we look at our data we discover something new. ... I think it’s the next level of complexity,” he says. “We look at the brain and we think about the tissue, but actually it seems like lots of tissues in one, because the cells are so heterogeneous. It’s almost like every cell was there for a purpose.”
"Cada vez que nós olhamos nossos dados, nós descobrimos algo novo. ... Eu penso que seja o próximo nível de complexidade,” disse ele. “Nós olhamos o cérebro e pensamos sobre o tecido, mas na verdade parece como um punhado de tecidos em um, porque as células são tão heterogêneas. É quase como se cada célula estivesse lá para um propósito.”
Fui, nem sei por que, matutando: como que mentes científicas tão brilhantes e diante da extrema complexidade encontradas nos sistemas biológicos, sejam capazes de se maravilhar sobre a possibilidade de propósito (teleologia), e em vez de afirmarem sua existência, suprimem o design inteligente encontrado com frases dúbias...
O cientista deve seguir as evidências aonde elas forem dar, é a regra epistêmica ensinada nas universidades, mas violentada diariamente pela camisa de força do paradigma materialista que posa como se fosse ciência. Nada mais falso!
Vade retro!!!
