FEATURED BOOKS AND DVDS
Paperback / $6.00 / 55 Pages
If there is one thing that we have learned in the last few years, it is that the prefix “pan” means “everywhere”. So it is with the new term pangenome. This refers to a reference standard on the variations in order of nucleotides along the chromosomes of many individuals from a given taxonomic group such as humans. The information for a pangenome comes not from one individual or small group of similar individuals but from as many people of diverse ethnic backgrounds as possible.
Looking back, it was a pivotal moment in biological history in the year 2000 when U.S. President Bill Clinton and U.K. Prime Minister Tony Blain announced that the human genome had been (more or less) sequenced. That is, that the order of the three billion + nucleotides in one complete set of chromosomes in the nucleus of a human cell had been figured out. There were still a lot of gaps around centromeres and at the ends of chromosomes (telomeres), but this initially, for better or worse, would serve as the reference human genome for some time to come. (Parts of this genome had been spliced together from a number of individuals. The first genome of a single individual was that of genome pioneer Craig Venter himself in 2007.)
The word “reference” means a standard against which other information would be compared. As more and more complete genomes of people were documented, it became apparent that a reference genome from one or a few individuals, for one complete set of 23 chromosomes, was totally inadequate. As an article in Nature pointed out: “One comparison of 64 genomes of human individuals revealed nearly 16 million single nucleotide differences [SNPs] and more than 2 million structural variants in which sequences were deleted or inserted [indels].” (commentary: Michael Eisenstein. April 20, 2023 p. 618 in Nature)
It was apparent that what was needed was a pangenome: a composite reference from many genomes exhibiting the wide range of variability found in human populations. Thus, in July 2022 the Human Pangenome Reference Consortium published a draft pangenome based on 47 individuals from a wide range of ethnic and geographical backgrounds. There are plans to include many more people representing yet more diverse backgrounds. Now the problem is to figure out how to represent so much information in a way that is useful to those accessing the database.
Particularly relevant to this issue is the cover story on the pangenome in Nature May 11, 2023. Analysis: pp. 256-257; research Wen-Liao et al. pp. 312-324 quote p. 323 “ despite being predicted to have less than 1 base error per around 200,000 assembled bases, base level sequencing errors are still an issue. For example, we identified more than a dozen apparent frameshifts and nonsense mutations per genome annotation that are probably the result of sequencing errors.”
Research Mitchell R. Vollger et al. pp. 325-334 quote p. 332 “we identify over 1.99 million nonredundant SNVs [single nucleotide polymorphisms or variations] in a gene-rich portion of the genome previously considered largely inaccessible.”
Research Andrea Guarracino et al. pp. 335-343 quote “Eighteen of the twenty-three human chromosomes are metacentric with the centromere found in a median position between short (p) and long (q) arms whereas 5 are acrocentric, featuring one arm that is substantially shorter than the other. The SAACs [short arms of the human acrocentric chromosomes] (chromosome 13p, chr. 14 p, chr. 15 p, chr. 21 p and chr. 22 p) host the nucleolus organizer regions, the genomic segments that contain rDNA genes and that give rise to the interphase nucleoli.”
It is obvious that some very important regions of the genome were not previously elucidated and also that our initial understanding of human diversity was far too simplistic.
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Paperback / $12.00 / 295 Pages / line drawings
If there is one thing that we have learned in the last few years, it is that the prefix “pan” means “everywhere”. So it is with the new term pangenome. This refers to a reference standard on the variations in order of nucleotides along the chromosomes of many individuals from a given taxonomic group such as humans. The information for a pangenome comes not from one individual or small group of similar individuals but from as many people of diverse ethnic backgrounds as possible.
Looking back, it was a pivotal moment in biological history in the year 2000 when U.S. President Bill Clinton and U.K. Prime Minister Tony Blain announced that the human genome had been (more or less) sequenced. That is, that the order of the three billion + nucleotides in one complete set of chromosomes in the nucleus of a human cell had been figured out. There were still a lot of gaps around centromeres and at the ends of chromosomes (telomeres), but this initially, for better or worse, would serve as the reference human genome for some time to come. (Parts of this genome had been spliced together from a number of individuals. The first genome of a single individual was that of genome pioneer Craig Venter himself in 2007.)
The word “reference” means a standard against which other information would be compared. As more and more complete genomes of people were documented, it became apparent that a reference genome from one or a few individuals, for one complete set of 23 chromosomes, was totally inadequate. As an article in Nature pointed out: “One comparison of 64 genomes of human individuals revealed nearly 16 million single nucleotide differences [SNPs] and more than 2 million structural variants in which sequences were deleted or inserted [indels].” (commentary: Michael Eisenstein. April 20, 2023 p. 618 in Nature)
It was apparent that what was needed was a pangenome: a composite reference from many genomes exhibiting the wide range of variability found in human populations. Thus, in July 2022 the Human Pangenome Reference Consortium published a draft pangenome based on 47 individuals from a wide range of ethnic and geographical backgrounds. There are plans to include many more people representing yet more diverse backgrounds. Now the problem is to figure out how to represent so much information in a way that is useful to those accessing the database.
Particularly relevant to this issue is the cover story on the pangenome in Nature May 11, 2023. Analysis: pp. 256-257; research Wen-Liao et al. pp. 312-324 quote p. 323 “ despite being predicted to have less than 1 base error per around 200,000 assembled bases, base level sequencing errors are still an issue. For example, we identified more than a dozen apparent frameshifts and nonsense mutations per genome annotation that are probably the result of sequencing errors.”
Research Mitchell R. Vollger et al. pp. 325-334 quote p. 332 “we identify over 1.99 million nonredundant SNVs [single nucleotide polymorphisms or variations] in a gene-rich portion of the genome previously considered largely inaccessible.”
Research Andrea Guarracino et al. pp. 335-343 quote “Eighteen of the twenty-three human chromosomes are metacentric with the centromere found in a median position between short (p) and long (q) arms whereas 5 are acrocentric, featuring one arm that is substantially shorter than the other. The SAACs [short arms of the human acrocentric chromosomes] (chromosome 13p, chr. 14 p, chr. 15 p, chr. 21 p and chr. 22 p) host the nucleolus organizer regions, the genomic segments that contain rDNA genes and that give rise to the interphase nucleoli.”
It is obvious that some very important regions of the genome were not previously elucidated and also that our initial understanding of human diversity was far too simplistic.
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Paperback / $6.00 / 59 Pages / Full colour
If there is one thing that we have learned in the last few years, it is that the prefix “pan” means “everywhere”. So it is with the new term pangenome. This refers to a reference standard on the variations in order of nucleotides along the chromosomes of many individuals from a given taxonomic group such as humans. The information for a pangenome comes not from one individual or small group of similar individuals but from as many people of diverse ethnic backgrounds as possible.
Looking back, it was a pivotal moment in biological history in the year 2000 when U.S. President Bill Clinton and U.K. Prime Minister Tony Blain announced that the human genome had been (more or less) sequenced. That is, that the order of the three billion + nucleotides in one complete set of chromosomes in the nucleus of a human cell had been figured out. There were still a lot of gaps around centromeres and at the ends of chromosomes (telomeres), but this initially, for better or worse, would serve as the reference human genome for some time to come. (Parts of this genome had been spliced together from a number of individuals. The first genome of a single individual was that of genome pioneer Craig Venter himself in 2007.)
The word “reference” means a standard against which other information would be compared. As more and more complete genomes of people were documented, it became apparent that a reference genome from one or a few individuals, for one complete set of 23 chromosomes, was totally inadequate. As an article in Nature pointed out: “One comparison of 64 genomes of human individuals revealed nearly 16 million single nucleotide differences [SNPs] and more than 2 million structural variants in which sequences were deleted or inserted [indels].” (commentary: Michael Eisenstein. April 20, 2023 p. 618 in Nature)
It was apparent that what was needed was a pangenome: a composite reference from many genomes exhibiting the wide range of variability found in human populations. Thus, in July 2022 the Human Pangenome Reference Consortium published a draft pangenome based on 47 individuals from a wide range of ethnic and geographical backgrounds. There are plans to include many more people representing yet more diverse backgrounds. Now the problem is to figure out how to represent so much information in a way that is useful to those accessing the database.
Particularly relevant to this issue is the cover story on the pangenome in Nature May 11, 2023. Analysis: pp. 256-257; research Wen-Liao et al. pp. 312-324 quote p. 323 “ despite being predicted to have less than 1 base error per around 200,000 assembled bases, base level sequencing errors are still an issue. For example, we identified more than a dozen apparent frameshifts and nonsense mutations per genome annotation that are probably the result of sequencing errors.”
Research Mitchell R. Vollger et al. pp. 325-334 quote p. 332 “we identify over 1.99 million nonredundant SNVs [single nucleotide polymorphisms or variations] in a gene-rich portion of the genome previously considered largely inaccessible.”
Research Andrea Guarracino et al. pp. 335-343 quote “Eighteen of the twenty-three human chromosomes are metacentric with the centromere found in a median position between short (p) and long (q) arms whereas 5 are acrocentric, featuring one arm that is substantially shorter than the other. The SAACs [short arms of the human acrocentric chromosomes] (chromosome 13p, chr. 14 p, chr. 15 p, chr. 21 p and chr. 22 p) host the nucleolus organizer regions, the genomic segments that contain rDNA genes and that give rise to the interphase nucleoli.”
It is obvious that some very important regions of the genome were not previously elucidated and also that our initial understanding of human diversity was far too simplistic.
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Paperback / $10.00 / 138 Pages / full colour
If there is one thing that we have learned in the last few years, it is that the prefix “pan” means “everywhere”. So it is with the new term pangenome. This refers to a reference standard on the variations in order of nucleotides along the chromosomes of many individuals from a given taxonomic group such as humans. The information for a pangenome comes not from one individual or small group of similar individuals but from as many people of diverse ethnic backgrounds as possible.
Looking back, it was a pivotal moment in biological history in the year 2000 when U.S. President Bill Clinton and U.K. Prime Minister Tony Blain announced that the human genome had been (more or less) sequenced. That is, that the order of the three billion + nucleotides in one complete set of chromosomes in the nucleus of a human cell had been figured out. There were still a lot of gaps around centromeres and at the ends of chromosomes (telomeres), but this initially, for better or worse, would serve as the reference human genome for some time to come. (Parts of this genome had been spliced together from a number of individuals. The first genome of a single individual was that of genome pioneer Craig Venter himself in 2007.)
The word “reference” means a standard against which other information would be compared. As more and more complete genomes of people were documented, it became apparent that a reference genome from one or a few individuals, for one complete set of 23 chromosomes, was totally inadequate. As an article in Nature pointed out: “One comparison of 64 genomes of human individuals revealed nearly 16 million single nucleotide differences [SNPs] and more than 2 million structural variants in which sequences were deleted or inserted [indels].” (commentary: Michael Eisenstein. April 20, 2023 p. 618 in Nature)
It was apparent that what was needed was a pangenome: a composite reference from many genomes exhibiting the wide range of variability found in human populations. Thus, in July 2022 the Human Pangenome Reference Consortium published a draft pangenome based on 47 individuals from a wide range of ethnic and geographical backgrounds. There are plans to include many more people representing yet more diverse backgrounds. Now the problem is to figure out how to represent so much information in a way that is useful to those accessing the database.
Particularly relevant to this issue is the cover story on the pangenome in Nature May 11, 2023. Analysis: pp. 256-257; research Wen-Liao et al. pp. 312-324 quote p. 323 “ despite being predicted to have less than 1 base error per around 200,000 assembled bases, base level sequencing errors are still an issue. For example, we identified more than a dozen apparent frameshifts and nonsense mutations per genome annotation that are probably the result of sequencing errors.”
Research Mitchell R. Vollger et al. pp. 325-334 quote p. 332 “we identify over 1.99 million nonredundant SNVs [single nucleotide polymorphisms or variations] in a gene-rich portion of the genome previously considered largely inaccessible.”
Research Andrea Guarracino et al. pp. 335-343 quote “Eighteen of the twenty-three human chromosomes are metacentric with the centromere found in a median position between short (p) and long (q) arms whereas 5 are acrocentric, featuring one arm that is substantially shorter than the other. The SAACs [short arms of the human acrocentric chromosomes] (chromosome 13p, chr. 14 p, chr. 15 p, chr. 21 p and chr. 22 p) host the nucleolus organizer regions, the genomic segments that contain rDNA genes and that give rise to the interphase nucleoli.”
It is obvious that some very important regions of the genome were not previously elucidated and also that our initial understanding of human diversity was far too simplistic.
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Hardcover / $52.00 / 433 Pages
If there is one thing that we have learned in the last few years, it is that the prefix “pan” means “everywhere”. So it is with the new term pangenome. This refers to a reference standard on the variations in order of nucleotides along the chromosomes of many individuals from a given taxonomic group such as humans. The information for a pangenome comes not from one individual or small group of similar individuals but from as many people of diverse ethnic backgrounds as possible.
Looking back, it was a pivotal moment in biological history in the year 2000 when U.S. President Bill Clinton and U.K. Prime Minister Tony Blain announced that the human genome had been (more or less) sequenced. That is, that the order of the three billion + nucleotides in one complete set of chromosomes in the nucleus of a human cell had been figured out. There were still a lot of gaps around centromeres and at the ends of chromosomes (telomeres), but this initially, for better or worse, would serve as the reference human genome for some time to come. (Parts of this genome had been spliced together from a number of individuals. The first genome of a single individual was that of genome pioneer Craig Venter himself in 2007.)
The word “reference” means a standard against which other information would be compared. As more and more complete genomes of people were documented, it became apparent that a reference genome from one or a few individuals, for one complete set of 23 chromosomes, was totally inadequate. As an article in Nature pointed out: “One comparison of 64 genomes of human individuals revealed nearly 16 million single nucleotide differences [SNPs] and more than 2 million structural variants in which sequences were deleted or inserted [indels].” (commentary: Michael Eisenstein. April 20, 2023 p. 618 in Nature)
It was apparent that what was needed was a pangenome: a composite reference from many genomes exhibiting the wide range of variability found in human populations. Thus, in July 2022 the Human Pangenome Reference Consortium published a draft pangenome based on 47 individuals from a wide range of ethnic and geographical backgrounds. There are plans to include many more people representing yet more diverse backgrounds. Now the problem is to figure out how to represent so much information in a way that is useful to those accessing the database.
Particularly relevant to this issue is the cover story on the pangenome in Nature May 11, 2023. Analysis: pp. 256-257; research Wen-Liao et al. pp. 312-324 quote p. 323 “ despite being predicted to have less than 1 base error per around 200,000 assembled bases, base level sequencing errors are still an issue. For example, we identified more than a dozen apparent frameshifts and nonsense mutations per genome annotation that are probably the result of sequencing errors.”
Research Mitchell R. Vollger et al. pp. 325-334 quote p. 332 “we identify over 1.99 million nonredundant SNVs [single nucleotide polymorphisms or variations] in a gene-rich portion of the genome previously considered largely inaccessible.”
Research Andrea Guarracino et al. pp. 335-343 quote “Eighteen of the twenty-three human chromosomes are metacentric with the centromere found in a median position between short (p) and long (q) arms whereas 5 are acrocentric, featuring one arm that is substantially shorter than the other. The SAACs [short arms of the human acrocentric chromosomes] (chromosome 13p, chr. 14 p, chr. 15 p, chr. 21 p and chr. 22 p) host the nucleolus organizer regions, the genomic segments that contain rDNA genes and that give rise to the interphase nucleoli.”
It is obvious that some very important regions of the genome were not previously elucidated and also that our initial understanding of human diversity was far too simplistic.
Order Online