Dr Sarah J Lindsay | Senior Staff Scientist

Lindsay, Sarah J

Although I initially trained to be an archaeologist, I developed an interest in genetics after working on the human and nematode genome project as a technician, and retrained as a scientist. I am interested in the causes and consequences of de novo variation - what are the underlying mechanisms ? How do they differ between individuals ? What are the effects of age, gender, and species ? What are the mutation rates in different cell lineages ? Do they differ ?

I am responsible for the management and analysis of various research projects in population genetics, sequence analysis, and human and mouse variation. I manage our laboratory, which involves overseeing health and safety, supporting the laboratory needs of the team and orientation of new starters, as well as overseeing the management of the Human Genetics wet labs.

Publications

  • Timing, rates and spectra of human germline mutation.

    Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB et al.

    Nature genetics 2016;48;2;126-133

  • The genome-wide effects of ionizing radiation on mutation induction in the mammalian germline.

    Adewoye AB, Lindsay SJ, Dubrova YE and Hurles ME

    Nature communications 2015;6;6684

  • Absence of heterozygosity due to template switching during replicative rearrangements.

    Carvalho CM, Pfundt R, King DA, Lindsay SJ, Zuccherato LW et al.

    American journal of human genetics 2015;96;4;555-64

  • Rare variants in NR2F2 cause congenital heart defects in humans.

    Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP et al.

    American journal of human genetics 2014;94;4;574-85

  • The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.

    MacArthur JA, Spector TD, Lindsay SJ, Mangino M, Gill R et al.

    PLoS genetics 2014;10;3;e1004195

  • Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

    Wheeler E, Huang N, Bochukova EG, Keogh JM, Lindsay S et al.

    Nature genetics 2013;45;5;513-7

  • An integrated map of genetic variation from 1,092 human genomes.

    1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA et al.

    Nature 2012;491;7422;56-65

  • Variation in genome-wide mutation rates within and between human families.

    Conrad DF, Keebler JE, DePristo MA, Lindsay SJ, Zhang Y et al.

    Nature genetics 2011;43;7;712-4

  • Mutation spectrum revealed by breakpoint sequencing of human germline CNVs.

    Conrad DF, Bird C, Blackburne B, Lindsay S, Mamanova L et al.

    Nature genetics 2010;42;5;385-91

  • A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination.

    Lindsay SJ, Khajavi M, Lupski JR and Hurles ME

    American journal of human genetics 2006;79;5;890-902

  • Shotgun haplotyping: a novel method for surveying allelic sequence variation.

    Lindsay SJ, Bonfield JK and Hurles ME

    Nucleic acids research 2005;33;18;e152

  • Finishing the euchromatic sequence of the human genome.

    International Human Genome Sequencing Consortium

    Nature 2004;431;7011;931-45

  • Timing, rates and spectra of human germline mutation.

    Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB et al.

    Nature genetics 2016;48;2;126-133

  • An integrated map of genetic variation from 1,092 human genomes.

    1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA et al.

    Nature 2012;491;7422;56-65

  • Ultra-high resolution array painting facilitates breakpoint sequencing.

    Gribble SM, Kalaitzopoulos D, Burford DC, Prigmore E, Selzer RR et al.

    Journal of medical genetics 2007;44;1;51-8

  • Shotgun haplotyping: a novel method for surveying allelic sequence variation.

    Lindsay SJ, Bonfield JK and Hurles ME

    Nucleic acids research 2005;33;18;e152

  • Finishing the euchromatic sequence of the human genome.

    International Human Genome Sequencing Consortium

    Nature 2004;431;7011;931-45

  • Genome sequence of the nematode C. elegans: a platform for investigating biology.

    C. elegans Sequencing Consortium

    Science (New York, N.Y.) 1998;282;5396;2012-8

Career/Research Highlights

Lindsay, Sarah J
Sarah's Timeline
2016

Senior Staff Scientist, Genome Mutation and Genetic Disease, Wellcome Trust Sanger Institute.

2008

Staff Scientist, Genome Mutation and Genetic Disease, Wellcome Trust Sanger Institute.

2004

Postdoctoral Researcher, Genome Dynamics and Evolution, Wellcome Trust Sanger Institute.

2001

Research Associate, Sequencing Research and Development, Wellcome Trust Sanger Institute.

PhD, UMIST, "Genetic Diversity of Wild and Domesticated Wheats" with Professor T.A Brown

MSc Biomolecular Archaeology, UMIST

BA (Hons) Archaeology and Prehistory (University of Sheffield)