Presented here is a genome sequence of an individual human. It was produced from∼ 32
million random DNA fragments, sequenced by Sanger dideoxy technology and assembled …

There is increasing evidence that the phenotypic effects of genomic sequence variants are
best understood in terms of variant haplotypes rather than as isolated polymorphisms …

Determining the genome sequence of an organism is challenging, yet fundamental to
understanding its biology. Over the past decade, thousands of human genomes have been …

Here we present the first diploid genome sequence of an Asian individual. The genome was
sequenced to 36-fold average coverage using massively parallel sequencing technology …

The availability of a high quality human genome assembly has revolutionized biomedical
research. Genomics has now entered the realm of clinical genetics, with many groups using …

The human genome is diploid, and knowledge of the variants on each chromosome is
important for the interpretation of genomic information. Here we report the assembly of a …

We present the first comprehensive analysis of a diploid human genome that combines
single-molecule sequencing with single-molecule genome maps. Our hybrid assembly …

In an effort to more fully understand the full spectrum of human genetic variation, we
generated deep single-molecule, real-time (SMRT) sequencing data from two haploid …

The revolution in DNA sequencing technologies has now made it feasible to determine the
genome sequences of many individuals; ie,“personal genomes.” Genome sequences of …

The diploid nature of the human genome is neglected in many analyses done today, where
a genome is perceived as a set of unphased variants with respect to a reference genome …