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First African Human Genome Sequenced

March 01, 2024

Illumina, Inc., San Diego, announced that company scientists sequenced the genome of an anonymous African male (Yoruba from Ibadan, Nigeria), using the Genome Analyzer. Sequencing of this HapMap sample was conducted internally and marks the first human genome sequence generated exclusively with paired reads of 35 to 50 bases in length. The project was completed in a matter of weeks, according to the company.

More than 95 percent of production runs generated high-quality data with an average of over three billion bases (three Gb) per run.

Using paired reads primarily from 200 base pair (bp) insert size libraries, supplemented with reads from 2000 bp insert size libraries, Illumina scientists initially conducted 27 runs to generate over 75 Gb of DNA sequence and achieve more than 90 percent coverage of the genome. An initial analysis yielded over 3.7 million single nucleotide polymorphisms (SNPs), including more than one million novel SNPs. As expected, the remaining SNPs correspond to those found in public databases.

Source: Illumina


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