分子診斷學概論(完整版)
【正文】 his suggests an important role for nonSNP geic alterations in defining the diploid genome structure. Moreover, 44% of genes were heterozygous for one or more variants. Using a novel haplotype assembly strategy, we were able to span Gb of genome sequence in segments .200 kb, providing further precision to the diploid nature of the genome. These data depict a definitive molecular portrait of a diploid human genome that provides a starting point for future genome parisons and enables an era of individualized genomic information. ? Author Summary ? We have generated an independently assembled diploid human genomic DNA sequence from both chromosomes of a single individual (J. Craig Venter). Our approach, based on wholegenome shotgun sequencing and using enhanced genome assembly strategies and software, generated an assembled genome over half of which is represented in large diploid segments (.200 kilobases), enabling study of the diploid genome. Comparison with previous reference human genome sequences, which were posites prising multiple humans, revealed that the majority of genomic alterations are the wellstudied class of variants based on single nucleotides (SNPs). However, the results also reveal that lesserstudied genomic variants, insertions and deletions, while prising a minority (22%) of genomic variation events, actually account for almost 74% of variant nucleotides. Inclusion of insertion and deletion geic variation into our estimates of interchromosomal difference reveals that only % similarity exists between the two chromosomal copies of an individual and that geic variation between two individuals is as much as five times higher than previously estimated. The existence of a wellcharacterized diploid human genome sequence provides a starting point for future individual genome parisons and enables the emerging era of individualized genomic information. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature. 2023 Jun 14。 5端 GTAG 3端 可能與調(diào)控有關，基因的穩(wěn)定有相關 聚腺苷酸化訊號 polyadenylation signal mRNA 3端的 AAUAAA序列下游約 1530 bp會被切除，再加上 poly A tail。 2023年
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