Initial impact of the sequencing of the human genome

By Eric S. Lander. Nature, 2011

1,090 citations recorded by the source corpus.

The sequence of the human genome has dramatically accelerated biomedical research. Here I explore its impact, in the decade since its publication, on our understanding of the biological functions encoded in the genome, on the biological basis of inherited diseases and cancer, and on the evolution and history of the human species. I also discuss the road ahead in fulfilling the promise of genomics for medicine.

Subfields: Cancer Research, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/3b8f5a4ad1915881230aad39204e5a0a5f2fae45

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cancer Research

In Genetics

In Molecular Biology

Citations in the corpus

A survey of tools for variant analysis of next-generation genome sequencing data (2013, background): “This unbiased survey of many genes and variants robustly identified associations between 1300 loci and 200 diseases or traits [36].”
The Human Sciences in a Biological Age (2013, background): “In a recent review of the impact of the sequencing of the human genome 10 years on, the eminent genome scientist Eric Lander pointed to our growing realization of how much we now know that we do not know (Lander, 2011).”
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data (2011, neutral): “For example, GWASs have identified associations between ~1,300 loci and ~200 diseases or traits 4 (see the US National Human Genome Research Institute Catalog of Published Genome-Wide Association Studies).”
The mystery of missing heritability: Genetic interactions create phantom heritability (2012, background): “The currently known loci can explain ∼22%, ∼58%, or more of the true heritability, depending on whether the disease follows an LP(1), LP(3), or other model.”
Practitioner Review: What have we learnt about the causes of ADHD? (2013, background): “One of the key aims of molecular genetic studies is to identify underlying, as yet unknown, biological, cognitive, brain and psychosocial risk pathways that lead to the disorder; we provided the example of the COMT association with antisocial behaviour in ADHD as possibly being mediated via impaired”
Proteomic and Bioinformatic Analysis of mSWI/SNF (BAF) Complexes Reveals Extensive Roles in Human Malignancy (2013, background): “Mutation and loss of expression of ARID1A in uterine low-grade endometrioid carcinoma. Am. J. Surg. Pathol. 35, 625–632 (2011). 74. Peña-Llopis, S. et al. BAP1 loss defines a new class of renal cell carcinoma. Nat. Genet. 44, 751–759 (2012). 75. Puente, X.S. et al. Whole-genome sequencing identifies”
Next-Generation Sequencing — An Overview of the History, Tools, and “Omic” Applications (2016, background): “The accumulation of knowledge on the human genome and its genetic and molecular processes (humanomics) has amplified considerably since the first draft assembly was published in 2001 [262].”
Rapid dissection and model-based optimization of inducible enhancers in human cells using a massively parallel reporter assay (2012, neutral): “We simultaneously considered the induced and uninduced linear QSAMs and, for each position, selected the nucleotide predicted to maximize inducibility, without (1) increasing the uninduced activity or (2) decreasing the induced activity relative to the wild-type.”